CN106227992A - A kind of recommendation method and system of therapeutic scheme - Google Patents
A kind of recommendation method and system of therapeutic scheme Download PDFInfo
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Abstract
The present invention relates to the recommendation method and system of a kind of therapeutic scheme, wherein method includes: S1, receives the gene sequencing object information of input, is analyzed gene sequencing object information obtaining all mutant gene information；S2, mates described mutant gene information with the disease gene information prestored in accurate medical knowledge storehouse, it may be judged whether there is the disease gene information of correspondence, if it is, perform step S3；Otherwise, feed back risk information, terminate；S3, obtains disease treatment scheme information according to disease gene information from accurate medical knowledge storehouse.The present invention establishes accurate medical knowledge storehouse and case database, by driving gene, variation type, disease, medicine and the multidimensional data algorithm of drug susceptibility based on drug targets variation, tumor, therapeutic scheme based on genovariation and clinic is recommended to annotate for tumor patient.
Description
Technical field
The present invention relates to the recommendation method and system of a kind of therapeutic scheme, belong to technical field of biological information.
Background technology
According to " whole world cancer report 2014 " display, within 2012, Cancer in China number of the infected is 306.5 ten thousand, accounts for whole world cancer
The 1/5 of number of the infected；Number of cancer deaths is 220.5 ten thousand, accounts for the 1/4 of whole world number of cancer deaths.Precisely medical treatment is basis
Individual gene expression characteristics, environment and living habit carries out the new methods of disease prevention and treatment.With nonsmall-cell lung cancer
As a example by, the East Asia patient of about 40% is to be caused by EGFR genetic mutation, and this in 40% about 40% patient carry L858R and dash forward
Becoming, about 50% carries 19 exon disappearances, and to EGFR-TKI class medicaments insensitive, and about 10% patient carries T790M sudden change,
To EGFR-TKI class Drug-resistant.
Detected by gene sequencing, analyze the gene mutation that patient carries, it is possible to provide the medicine that he/her is suitable for exactly
Thing.Along with the fast development of high throughput sequencing technologies, the exploitation of big data analysis tool, individual patient is carried out gene test,
Analyze the variation of its genes of individuals, by building based on evidence-based medicine EBM, integration Biomedical literature data, public biomedical group
The accurate medical knowledge storehouse learning the therapeutic scheme data such as data and FDA, CFDA, NCCN guide carries out clinic to genes of individuals feature
Annotation, develops the therapeutic scheme that corresponding algorithm recommends individuality to be suitable for and realizes accurate medical treatment and be possibly realized.How to integrate and profit
Learn resource by these groups and also reform into nowadays closely bound up with personal health and accurate medical treatment hot issue.External American-European advanced
Country has started the research processing for the big data of precisely medical treatment and utilizing the beginning of this century, establishes various function different, stresses
The data base that point differs, has preliminarily formed the Standardization System of precisely medical treatment.China is in the world on gene sequencing technology
Top standard, but the most effectively utilize and collection group data message, carry out malignant tumor and precisely treat as China the most smart
The most important thing of quasi-medical field.
Summary of the invention
The technical problem to be solved is, does not utilize and collection group data message in prior art,
Set up the large database system based on malignant tumor is precisely treated and comprehensive data analysis system, the one side for the treatment of is provided
The recommendation method and system of case.
The technical scheme is that a kind of recommendation method of therapeutic scheme, including following
Step:
S1, receives the gene sequencing object information of input, is analyzed obtaining all variations to gene sequencing object information
Gene information；
S2, mates described mutant gene information with the disease gene information prestored in accurate medical knowledge storehouse,
Judge whether the disease gene information of correspondence, if it is, perform step S3；Otherwise, feed back risk information, terminate；
S3, obtains disease treatment scheme information according to disease gene information from accurate medical knowledge storehouse.
The invention has the beneficial effects as follows: the present invention by based on drug targets make a variation, tumor drive gene, variation type,
The multidimensional data algorithm of disease, medicine and drug susceptibility, recommends therapeutic scheme based on genovariation for tumor patient and faces
Bed annotation.
On the basis of technique scheme, the present invention can also do following improvement.
Further, described accurate medical knowledge storehouse is used for storing multiple disease name information, disease gene information and disease
Therapeutic scheme information, and the pharmacology information of multi-medicament name information and correspondence thereof；
There is the corresponding relation of one-to-many in described disease name information and disease gene information, described disease treatment scheme is believed
There is many-to-one corresponding relation in breath and disease name information；
There is the corresponding relation of one-to-many in described disease treatment scheme information and medicine name information.
Use above-mentioned further scheme to provide the benefit that, set up accurate medical knowledge storehouse based on larger medical data, its
Containing the information the most relevant to disease and drug information, user just can be in accurate medical knowledge storehouse by gene coupling
Obtain relevant information, it is possible to recognize the need for what does in the very first time, will not be helpless because falling ill suddenly, for doctor
Raw also have directivity effect in fact treating to treat, but the recommendation method of the therapeutic scheme of present invention proposition can not substitute regular doctor
Doctor's diagnosis and treatment of institute.
Further, in described S2 by described mutant gene information according to marker site in accurate medical knowledge storehouse automatic
Join drug resistant gene, drug toxicity gene and disease parting gene etc..
Further, described step S1 is analyzed specifically including following steps to gene sequencing object information:
According to the form of gene sequencing object information, detection scheme selection analysis flow process；
By the analysis process of selection to all or part of information in gene sequencing object information and with reference to genome ratio
Right, obtain mutant gene information.
Above-mentioned further scheme is used to provide the benefit that, the genetic test result letter that different gene sequencing systems obtains
Form and the size of breath are the most different, select different analysis process can improve analysis efficiency according to its form with size, it is to avoid
Still use when quantity of information is the biggest Whole genome analysis seriously to drag and analyze speed slowly.
Further, it is used for detecting somatic mutation in human body, analysis process compatibility targeting capture sequencing data, full exon
Group sequencing data and sequencing data of whole genome；
The data structure of described analysis process is the fastq file of Illumina platform, or Ion torrent platform
Bam file.
Illumina platform the analysis process of fastq: remove low quality base, use sliding window algorithm
Remove comprise more low quality base order-checking section fragment, remove joint sequence pollute, enter the comparison stage, by sequencing result with
Human genome reference sequences is compared, and filters out the low-quality base sequence of comparison, obtains bam file, carries out the position that makes a variation
Point extracts, it is thus achieved that genovariation information, including single nucleotide variations (SNVs), genetic insertion and disappearance (Indel)；Outside complete
Aobvious son and sequencing data of whole genome also include the knots such as copy number variation (CNV), group translocation (gene translocations)
Structure makes a variation, and obtains VCF file, enters accurate medical knowledge storehouse, carries out automatization's clinical meaning note by certain search logic
Release, it is recommended that therapeutic scheme, generate the report of individuation evidence-based medicine EBM.The bam file of Ion torrent platform: first bam literary composition
Part converts back fastq file and carries out Quality Control, identifies subsequently into comparison and variation, it is thus achieved that genovariation information, including monokaryon glycosides
Copy number variation (CNV), the group translocation of acid variation (SNVs), genetic insertion and disappearance (Indel) and full exon group order-checking
Structure variations such as (gene translocations), obtains VCF file, enters accurate medical knowledge storehouse, by certain search
Logic carries out automatization's clinical meaning annotation, it is recommended that therapeutic scheme, generates the report of individuation evidence-based medicine EBM.
Further, also include S4, user basic information, gene sequencing object information and disease treatment scheme information are stored in
Case database.
Above-mentioned further scheme is used to provide the benefit that, by record user basic information, gene sequencing object information
With disease treatment scheme information, set up case database, can by follow-up follow the tracks of understand recommend the effectiveness of therapeutic scheme and this
Inventing the pluses and minuses that described method exists, the progress of upgrading automatically for scheme has beneficial effect.
The technical scheme is that the commending system of a kind of therapeutic scheme, including:
Analyze module, receive the gene sequencing object information of input, be analyzed obtaining institute to gene sequencing object information
There is mutant gene information；
Matching module, is carried out described mutant gene information with the disease gene information prestored in accurate medical knowledge storehouse
Coupling, it may be judged whether there is the disease gene information of correspondence, if it is, trigger method recommending module；Otherwise, feedback risk letter
Breath, terminates；
Scheme recommending module, obtains disease treatment scheme information according to disease gene information from accurate medical knowledge storehouse.
On the basis of technique scheme, the present invention can also do following improvement.
Further, described accurate medical knowledge storehouse is used for storing multiple disease name information, disease gene information and disease
Therapeutic scheme information, and the pharmacology information of multi-medicament name information and correspondence thereof；
There is the corresponding relation of one-to-many, described disease treatment scheme in described disease name information and disease gene information
There is many-to-one corresponding relation in information and disease name information；
There is the corresponding relation of one-to-many in described disease treatment scheme information and medicine name information.
Further, in described matching module by described mutant gene information according to marker site in accurate medical knowledge storehouse
Auto-matching drug resistant gene, drug toxicity gene and disease parting gene etc..
Further, described analysis module is analyzed specifically including following steps to gene sequencing object information:
According to the form of gene sequencing object information, detection scheme selection analysis flow process；
By the analysis process of selection to all or part of information in gene sequencing object information and with reference to genome ratio
Right, obtain mutant gene information.
Further, somatic mutation in detection human body, analysis process compatibility targeting capture sequencing data, full exon group are surveyed
Ordinal number evidence and sequencing data of whole genome；
The data structure of described analysis process is the fastq file of Illumina platform, or Ion torrent platform
Bam file.
Illumina platform the analysis process of fastq: remove low quality base, use sliding window algorithm
Remove comprise more low quality base order-checking section fragment, remove joint sequence pollute, enter the comparison stage, by sequencing result with
Human genome reference sequences is compared, and filters out the low-quality base sequence of comparison, obtains bam file, carries out the position that makes a variation
Point extracts, it is thus achieved that genovariation information, including single nucleotide variations (SNVs), genetic insertion and disappearance (Indel)；Outside complete
Aobvious son and sequencing data of whole genome also include the knots such as copy number variation (CNV), group translocation (gene translocations)
Structure makes a variation, and obtains VCF file, enters accurate medical knowledge storehouse, carries out automatization's clinical meaning note by certain search logic
Release, it is recommended that therapeutic scheme, generate the report of individuation evidence-based medicine EBM.The bam file of Ion torrent platform: first bam file
Convert back fastq file and carry out Quality Control, identify subsequently into comparison and variation, it is thus achieved that genovariation information, including mononucleotide
Copy number variation (CNV), the group translocation of variation (SNVs), genetic insertion and disappearance (Indel) and full exon group order-checking
Structure variations such as (gene translocations), is obtained VCF file, enters accurate medical knowledge storehouse, searched by certain
Rope logic carries out automatization's clinical meaning annotation, it is recommended that therapeutic scheme, generates the report of individuation evidence-based medicine EBM.
Further, also include data memory module, by user basic information, gene sequencing object information and disease treatment side
Case information is stored in case database.
Accompanying drawing explanation
Fig. 1 is the recommendation method flow diagram of a kind of therapeutic scheme described in the embodiment of the present invention 1；
Fig. 2 is the commending system structural representation of a kind of therapeutic scheme described in the embodiment of the present invention 1.
In accompanying drawing, the list of parts representated by each label is as follows:
1, module is analyzed, 2, matching module, 3, scheme recommending module, 4, data memory module.
Detailed description of the invention
Being described principle and the feature of the present invention below in conjunction with accompanying drawing, example is served only for explaining the present invention, and
Non-for limiting the scope of the present invention.
As it is shown in figure 1, for the recommendation method of a kind of therapeutic scheme described in the embodiment of the present invention 1, comprise the following steps:
S1, receives the gene sequencing object information of input, is analyzed obtaining all variations to gene sequencing object information
Gene information；
S2, mates described mutant gene information with the disease gene information prestored in accurate medical knowledge storehouse,
Judge whether the disease gene information of correspondence, if it is, perform step S3；Otherwise, feed back risk information, terminate；
S3, obtains disease treatment scheme information according to disease gene information from accurate medical knowledge storehouse.
Described accurate medical knowledge storehouse is used for storing multiple disease name information, disease gene information and disease treatment scheme
Information, and the pharmacology information of multi-medicament name information and correspondence thereof；
There is the corresponding relation of one-to-many in described disease name information and disease gene information, described disease treatment scheme is believed
There is many-to-one corresponding relation in breath and disease name information；
There is the corresponding relation of one-to-many in described disease treatment scheme information and medicine name information.
By described mutant gene information according to marker site Auto-matching drug resistance in accurate medical knowledge storehouse in described S2
Gene, drug toxicity gene and disease parting gene etc..
Gene sequencing object information is analyzed specifically including following steps by described step S1:
According to the form of gene sequencing object information, detection scheme selection analysis flow process；
By the analysis process of selection to all or part of information in gene sequencing object information and with reference to genome ratio
Right, obtain mutant gene information.
Somatic mutation in detection human body, analysis process compatibility targeting capture sequencing data, full exon group sequencing data
And sequencing data of whole genome；
The data structure of described analysis process is the fastq file of Illumina platform, or Ion torrent platform
Bam file.
Illumina platform the analysis process of fastq: remove low quality base, use sliding window algorithm
Remove comprise more low quality base order-checking section fragment, remove joint sequence pollute, enter the comparison stage, by sequencing result with
Human genome reference sequences is compared, and filters out the low-quality base sequence of comparison, obtains bam file, carries out the position that makes a variation
Point extracts, it is thus achieved that genovariation information, including single nucleotide variations (SNVs), genetic insertion and disappearance (Indel)；Outside complete
Aobvious son and sequencing data of whole genome also include the knots such as copy number variation (CNV), group translocation (gene translocations)
Structure makes a variation, and obtains VCF file, enters accurate medical knowledge storehouse, carries out automatization's clinical meaning note by certain search logic
Release, it is recommended that therapeutic scheme, generate the report of individuation evidence-based medicine EBM.
The bam file of Ion torrent platform: first bam file is converted back fastq file and carry out Quality Control, then enter
Enter comparison and variation identifies, it is thus achieved that genovariation information, including single nucleotide variations (SNVs), genetic insertion and disappearance
(Indel) knots such as copy number variation (CNV), group translocation (gene translocations) that and full exon group checks order
Structure makes a variation, and obtains VCF file, enters accurate medical knowledge storehouse, carries out automatization's clinical meaning note by certain search logic
Release, it is recommended that therapeutic scheme, generate the report of individuation evidence-based medicine EBM.
Wherein, exon order-checking refers to utilize sequence capturing technology that full-length genome exon 1 domain dna is caught and is enriched with
After carry out the genome analytical method of high-flux sequence.
Also include S4, user basic information, gene sequencing object information and disease treatment scheme information are stored in case load
According to storehouse.
As in figure 2 it is shown, for the commending system of a kind of therapeutic scheme described in the embodiment of the present invention 2, including:
Analyze module 1, receive the gene sequencing object information of input, be analyzed obtaining institute to gene sequencing object information
There is mutant gene information；
Matching module 2, enters described mutant gene information with the disease gene information prestored in accurate medical knowledge storehouse
Row coupling, it may be judged whether there is the disease gene information of correspondence, if it is, trigger method recommending module 3；Otherwise, feedback risk
Information, terminates；
Scheme recommending module 3, obtains disease treatment scheme information according to disease gene information from accurate medical knowledge storehouse.
Described accurate medical knowledge storehouse is used for storing multiple disease name information, disease gene information and disease treatment scheme
Information, and the pharmacology information of multi-medicament name information and correspondence thereof；
There is the corresponding relation of one-to-many in described disease name information and disease gene information, described disease treatment scheme is believed
There is many-to-one corresponding relation in breath and disease name information；
There is the corresponding relation of one-to-many in described disease treatment scheme information and medicine name information.
By described mutant gene information according to marker site in accurate medical knowledge storehouse automatic in described matching module 2
Join drug resistant gene, drug toxicity gene and disease parting gene etc..
Gene sequencing object information is analyzed specifically including following steps by described analysis module 1:
According to the form of gene sequencing object information, detection scheme selection analysis flow process；
By the analysis process of selection to all or part of information in gene sequencing object information and with reference to genome ratio
Right, obtain mutant gene information.
Somatic mutation in detection human body, analysis process compatibility targeting capture sequencing data, full exon group sequencing data
And sequencing data of whole genome；
The data structure of described analysis process is the fastq file of Illumina platform, or Ion torrent platform
Bam file.
Illumina platform the analysis process of fastq: remove low quality base, use sliding window algorithm
Remove comprise more low quality base order-checking section fragment, remove joint sequence pollute, enter the comparison stage, by sequencing result with
Human genome reference sequences is compared, and filters out the low-quality base sequence of comparison, obtains bam file, carries out the position that makes a variation
Point extracts, it is thus achieved that genovariation information, including single nucleotide variations (SNVs), genetic insertion and disappearance (Indel)；Outside complete
Aobvious son and sequencing data of whole genome also include the knots such as copy number variation (CNV), group translocation (gene translocations)
Structure makes a variation, and obtains VCF file, enters accurate medical knowledge storehouse, carries out automatization's clinical meaning note by certain search logic
Release, it is recommended that therapeutic scheme, generate the report of individuation evidence-based medicine EBM.
The bam file of Ion torrent platform: first bam file is converted back fastq file and carry out Quality Control, then enter
Enter comparison and variation identifies, it is thus achieved that genovariation information, including single nucleotide variations (SNVs), genetic insertion and disappearance
(Indel) structures such as copy number variation (CNV), group translocation (gene translocations) that and full exon group checks order
Variation, obtains VCF file, enters accurate medical knowledge storehouse, carry out automatization's clinical meaning annotation by certain search logic,
Recommend therapeutic scheme, generate the report of individuation evidence-based medicine EBM.
Also include data memory module 4, by user basic information, gene sequencing object information and disease treatment scheme information
It is stored in case database.
A accurate medical knowledge storehouse: precisely medical knowledge storehouse is that biological group learns data and clinical medicine data store system, main
Saving over thousands of kind of medicine, nearly 400 kinds of diseases, thousands of kinds of molecular markers, more than 600 plant cancer immunotherapies etc..
B case database effect: case database mainly preserves the essential information of tumor patient to be analyzed, return visit information,
Select detection scheme, check order file, order-checking file information, to tumor patient recommend therapeutic scheme, tumor patient
Body evidence-based medicine EBM report etc...
Three big application platform effects:
A accurate medical knowledge library management platform major function is that the biological group collected is learned data and clinical medicine data
Be added, revise, the basic maintenance operation such as deletion, it is also possible to some data are done orientation and capture.Module mainly include disease,
Biomarker, variant sites and variation classification, clinical annotation, therapeutic scheme etc..
Disease module: according to patient information Auto-matching disease type in accurate medical knowledge storehouse, mainly has a solid tumor:
Nonsmall-cell lung cancer, colorectal cancer, melanoma, carcinoma of prostate, breast carcinoma, gastrointestinal stromal tumor, cerebral glioma, hepatocarcinoma, stomach
Cancer, renal carcinoma, head and neck cancer, thyroid carcinoma, soft tissue sarcoma, cervical cancer, ovarian cancer, the esophageal carcinoma；
Hematopathy: acute myeloid leukemia, myelodysplastic syndrome, bone marrow proliferative tumor, lymphoma, to bite blood thin
Born of the same parents' syndrome.
Biomarker module: according to testing result Auto-matching biomarker in accurate medical knowledge storehouse, drug resistant gene,
Drug toxicity gene, disease parting gene etc..
Variant sites and variation type: mate the variant sites in accurate medical knowledge storehouse and variation class according to testing result
Type information, such as: single nucleotide variations (SNV), insert (Insertion), disappearance (Deletion), methylate
(Methylation), microsatellite instability (MSI), copy number variation (CNV), tandem sequence repeats (Tandem Repeats),
Translocation (transposition), region annotation (Region-Based Variation), differential expression
(differentialexpression), (gene fusion), combined mutation (Combination Mutation) etc. are merged.
Clinical annotation: mate the clinical annotation in accurate medical knowledge storehouse according to testing result, such as: targeted therapies, chemotherapy,
Prognosis, diagnosis, hormonotherapy, radiotherapy etc..
Therapeutic scheme: mate the therapeutic scheme in accurate medical knowledge storehouse according to testing result, as nonsmall-cell lung cancer is suffered from
Person EGFR 19 exon disappearance or the sudden change of 21 exons, can provide Afatinib medication therapeutic scheme.
B sequencing data analysis platform major function is to be analyzed order-checking file, finds out all of from order-checking file
Variation.Owing to the difference of gene test platform can cause checking order file format, size has the biggest difference, for different platform,
Different detection schemes, different testing goals, building different analysis process is inevitable choice, and because sequencing data
All it is possible to hundreds of G from tens M, directly results in analysis time from 30 minutes to several days, therefore to improve system
System analysis ability, setting up and analyzing cluster is also inevitable choice.
Sequencing data analysis platform analysis process:
C Individual Diagnosis treatment platform major function is that the result to analysis platform analysis carries out accurate medical knowledge storehouse and looks into
Ask and analyze, provide evidence-based medicine EBM report for tumor patient.By case management system, upload order-checking file module and analyze module,
The functional module compositions such as individuation evidence-based medicine EBM report preparing system.
1. case management system:
Case management system can provide multiple inquiry mode, the convenient searching and managing that carries out case, during establishment case, fills out
Write individual essential information, also need to fill in diagnosis letter when other extraneous informations, such as pathological information and censorship for tumor patient
Breath.
Medical record management, is divided into four steps: patient information typing, gene and detection scheme select, gene and detection scheme
Confirm and submit laboratory to.Patient information is divided into essential information, disease information and pathological information, after patient information to be improved, and point
Hit [next step] and enter gene and detection scheme selection.
Gene and detection scheme select, and user, from aspects such as disease, medicine or panel, selects the gene of test, point
Hitting [next step] to confirm detection scheme, errorless rear click on [next step] submits laboratory to.
2. upload order-checking file and analyze module:
After laboratory gene sequencing terminates, click [uploading/analyze experimental result], enter and upload/analyze experimental result
Interface, input patient history number or name, the state of patient electronic medical record is result to be uploaded, clicks on [uploading], treats all bases
After all uploading successfully because of the result of test, screen lower right [analysis], by secretly brightening, click [analysis], platform is carried out point automatically
Analysis, finds out variant sites.When uploading test data result, data form is vcf or fastq or bam, once may be used during data analysis
To analyze multiple samples, please don't power-off and shutdown during analysis.3. individuation evidence-based medicine EBM report preparing system
After gene test interpretation of result completes, can show at patient condition one hurdle and analyze successfully, report to be gone out, this time point
Hit [therapeutic scheme suggestion], input patient history number and/or patient name, click on [therapeutic scheme suggestion], according to gene test
Analysis result, comparison data storehouse and history successful case, automatically generate therapeutic scheme, and corresponding Detailed clinical information.
The data that precisely medical knowledge storehouse and case database store:
Precisely medical knowledge storehouse: precisely medical knowledge storehouse preserves biology group and learns data and clinical medicine data, including disease,
Biomarker, variation type, variant sites, the data such as site clinic annotates, therapeutic scheme.
Case database: case database mainly preserves the essential information of tumor patient to be analyzed, return visit information, selection
Detection scheme, check order file, and the information of order-checking file, the therapeutic scheme recommended to tumor patient, the individuation of tumor patient is followed
Card medical report.
The foregoing is only presently preferred embodiments of the present invention, not in order to limit the present invention, all spirit in the present invention and
Within principle, any modification, equivalent substitution and improvement etc. made, should be included within the scope of the present invention.
Claims (10)
1. the recommendation method of a therapeutic scheme, it is characterised in that comprise the following steps:
S1, receives the gene sequencing object information of input, is analyzed obtaining all mutant genes to gene sequencing object information
Information；
S2, mates described mutant gene information with the disease gene information prestored in accurate medical knowledge storehouse, it is judged that
Whether there is the disease gene information of correspondence, if it is, perform step S3；Otherwise, feed back risk information, terminate；
S3, obtains disease treatment scheme information according to disease gene information from accurate medical knowledge storehouse.
The recommendation method of a kind of therapeutic scheme the most according to claim 1, it is characterised in that described accurate medical knowledge storehouse
For storing multiple disease name information, disease gene information and disease treatment scheme information, and multi-medicament name information
And the pharmacology information of correspondence；
There is the corresponding relation of one-to-many in described disease name information and disease gene information, described disease treatment scheme information with
There is many-to-one corresponding relation in disease name information；
There is the corresponding relation of one-to-many in described disease treatment scheme information and medicine name information.
The recommendation method of a kind of therapeutic scheme the most according to claim 1, it is characterised in that by described variation in described S2
Gene information is according to marker site Auto-matching drug resistant gene, drug toxicity gene and disease typing in accurate medical knowledge storehouse
Gene.
4. according to the recommendation method of a kind of therapeutic scheme described in any one of claim 1-3, it is characterised in that described step S1
In gene sequencing object information is analyzed specifically including following steps:
According to the form of gene sequencing object information, detection scheme selection analysis flow process；
By the analysis process of selection to all or part of information in gene sequencing object information with reference to genome alignment, obtain
To mutant gene information.
The recommendation method of a kind of therapeutic scheme the most according to claim 4, it is characterised in that in detection human body, somatic cell is dashed forward
Become, analysis process compatibility targeting capture sequencing data, full exon group sequencing data and sequencing data of whole genome；
The data structure of described analysis process is the fastq file of Illumina platform, or the bam of Iontorrent platform
File.
6. according to the recommendation method of a kind of therapeutic scheme described in any one of claim 1-3, it is characterised in that also include S4,
User basic information, gene sequencing object information and disease treatment scheme information are stored in case database.
7. the commending system of a therapeutic scheme, it is characterised in that including:
Analyze module, receive the gene sequencing object information of input, be analyzed obtaining all changes to gene sequencing object information
Allogene information；
Matching module, is carried out the disease gene information prestored in described mutant gene information and accurate medical knowledge storehouse
Join, it may be judged whether there is the disease gene information of correspondence, if it is, trigger method recommending module；Otherwise, feed back risk information,
Terminate；
Scheme recommending module, obtains disease treatment scheme information according to disease gene information from accurate medical knowledge storehouse.
The commending system of a kind of therapeutic scheme the most according to claim 7, it is characterised in that described accurate medical knowledge storehouse
For storing multiple disease name information, disease gene information and disease treatment scheme information, and multi-medicament name information
And the pharmacology information of correspondence；
There is the corresponding relation of one-to-many in described disease name information and disease gene information, described disease treatment scheme information with
There is many-to-one corresponding relation in disease name information；
There is the corresponding relation of one-to-many in described disease treatment scheme information and medicine name information.
The commending system of a kind of therapeutic scheme the most according to claim 7, it is characterised in that by institute in described matching module
State mutant gene information according to marker site Auto-matching drug resistant gene, drug toxicity gene and disease in accurate medical knowledge storehouse
Sick parting gene.
10. according to the commending system of a kind of therapeutic scheme described in any one of claim 7-9, it is characterised in that described analysis
Gene sequencing object information is analyzed specifically including following steps by module:
According to the form of gene sequencing object information, detection scheme selection analysis flow process；
By the analysis process of selection to all or part of information in gene sequencing object information with reference to genome alignment, obtain
To mutant gene information.
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| CN107103207A (en) * | 2017-04-05 | 2017-08-29 | 浙江大学 | Based on the multigroup accurate medical knowledge search system and implementation method for learning variation features of case |
| CN107122607A (en) * | 2017-04-28 | 2017-09-01 | 为朔医学数据科技（北京）有限公司 | A kind of method and device for generating therapeutic regimen report |
| CN107437004A (en) * | 2017-08-07 | 2017-12-05 | 深圳华大基因研究院 | A kind of system intelligently understood for tumour individuation genetic test |
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