AU2019335401A1 - Methods and systems for pedigree enrichment and family-based analyses within pedigrees - Google Patents

Methods and systems for pedigree enrichment and family-based analyses within pedigrees Download PDF

Info

Publication number
AU2019335401A1
AU2019335401A1 AU2019335401A AU2019335401A AU2019335401A1 AU 2019335401 A1 AU2019335401 A1 AU 2019335401A1 AU 2019335401 A AU2019335401 A AU 2019335401A AU 2019335401 A AU2019335401 A AU 2019335401A AU 2019335401 A1 AU2019335401 A1 AU 2019335401A1
Authority
AU
Australia
Prior art keywords
pedigree
affected
trait
unaffected
enriched
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Abandoned
Application number
AU2019335401A
Other languages
English (en)
Inventor
Claudia GONZAGA-JAUREGUI
Lukas HABEGGER
Jeffrey Reid
Jeffrey STAPLES
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Regeneron Pharmaceuticals Inc
Original Assignee
Regeneron Pharmaceuticals Inc
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Regeneron Pharmaceuticals Inc filed Critical Regeneron Pharmaceuticals Inc
Publication of AU2019335401A1 publication Critical patent/AU2019335401A1/en
Abandoned legal-status Critical Current

Links

Classifications

    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • G—PHYSICS
    • G06—COMPUTING OR CALCULATING; COUNTING
    • G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
    • G06N3/00—Computing arrangements based on biological models
    • G06N3/12—Computing arrangements based on biological models using genetic models
    • G06N3/126—Evolutionary algorithms, e.g. genetic algorithms or genetic programming
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G16B40/20—Supervised data analysis
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H10/00—ICT specially adapted for the handling or processing of patient-related medical or healthcare data
    • G16H10/60—ICT specially adapted for the handling or processing of patient-related medical or healthcare data for patient-specific data, e.g. for electronic patient records
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
    • G16H50/80—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for detecting, monitoring or modelling epidemics or pandemics, e.g. flu
    • Y—GENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y02—TECHNOLOGIES OR APPLICATIONS FOR MITIGATION OR ADAPTATION AGAINST CLIMATE CHANGE
    • Y02A—TECHNOLOGIES FOR ADAPTATION TO CLIMATE CHANGE
    • Y02A90/00—Technologies having an indirect contribution to adaptation to climate change
    • Y02A90/10—Information and communication technologies [ICT] supporting adaptation to climate change, e.g. for weather forecasting or climate simulation

Landscapes

  • Engineering & Computer Science (AREA)
  • Health & Medical Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Medical Informatics (AREA)
  • Public Health (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Evolutionary Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Data Mining & Analysis (AREA)
  • Epidemiology (AREA)
  • Primary Health Care (AREA)
  • Biomedical Technology (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Artificial Intelligence (AREA)
  • Software Systems (AREA)
  • Evolutionary Computation (AREA)
  • Databases & Information Systems (AREA)
  • Biotechnology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Computational Linguistics (AREA)
  • Mathematical Physics (AREA)
  • General Engineering & Computer Science (AREA)
  • Computing Systems (AREA)
  • General Physics & Mathematics (AREA)
  • Physiology (AREA)
  • Pathology (AREA)
  • Analytical Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Chemical & Material Sciences (AREA)
  • Bioethics (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Medical Treatment And Welfare Office Work (AREA)
  • Measurement Of The Respiration, Hearing Ability, Form, And Blood Characteristics Of Living Organisms (AREA)
AU2019335401A 2018-09-07 2019-09-06 Methods and systems for pedigree enrichment and family-based analyses within pedigrees Abandoned AU2019335401A1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201862728536P 2018-09-07 2018-09-07
US62/728,536 2018-09-07
PCT/US2019/049942 WO2020051445A1 (en) 2018-09-07 2019-09-06 Methods and systems for pedigree enrichment and family-based analyses within pedigrees

Publications (1)

Publication Number Publication Date
AU2019335401A1 true AU2019335401A1 (en) 2021-03-11

Family

ID=67997715

Family Applications (1)

Application Number Title Priority Date Filing Date
AU2019335401A Abandoned AU2019335401A1 (en) 2018-09-07 2019-09-06 Methods and systems for pedigree enrichment and family-based analyses within pedigrees

Country Status (11)

Country Link
US (1) US20200082947A1 (enExample)
EP (1) EP3847652A1 (enExample)
JP (1) JP2021536635A (enExample)
KR (1) KR20210055072A (enExample)
CN (1) CN113039606A (enExample)
AU (1) AU2019335401A1 (enExample)
CA (1) CA3109961A1 (enExample)
IL (1) IL281176A (enExample)
MX (1) MX2021002715A (enExample)
SG (1) SG11202101669RA (enExample)
WO (1) WO2020051445A1 (enExample)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN113368247B (zh) * 2021-05-25 2022-02-08 中国人民解放军军事科学院军事医学研究院 一种hoip抑制剂用于制备治疗ii型人毛细血管扩张症药物的应用

Family Cites Families (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2008018789A2 (en) * 2006-08-08 2008-02-14 Leiden University Medical Center Methods and means for diagnosing and treatment of osteoarthritis
US10347360B2 (en) * 2012-09-14 2019-07-09 Life Technologies Corporation Systems and methods for identifying sequence variation associated with genetic diseases
EP3437001A1 (en) * 2016-03-29 2019-02-06 Regeneron Pharmaceuticals, Inc. Genetic variant-phenotype analysis system and methods of use
CN117746978A (zh) 2017-09-07 2024-03-22 瑞泽恩制药公司 用于利用基因组数据分析中的亲缘关系的系统和方法

Also Published As

Publication number Publication date
MX2021002715A (es) 2021-05-12
US20200082947A1 (en) 2020-03-12
EP3847652A1 (en) 2021-07-14
KR20210055072A (ko) 2021-05-14
CA3109961A1 (en) 2020-03-12
SG11202101669RA (en) 2021-03-30
JP2021536635A (ja) 2021-12-27
WO2020051445A1 (en) 2020-03-12
IL281176A (en) 2021-04-29
CN113039606A (zh) 2021-06-25

Similar Documents

Publication Publication Date Title
Kosoy et al. Genetics of the human microglia regulome refines Alzheimer’s disease risk loci
Dong et al. A global overview of genetically interpretable multimorbidities among common diseases in the UK Biobank
Ruhno et al. Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype
König et al. What is precision medicine?
Guo et al. The effect of strand bias in Illumina short-read sequencing data
Freed et al. The contribution of mosaic variants to autism spectrum disorder
Olbrich et al. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry
Chasman et al. Selectivity in genetic association with sub-classified migraine in women
Lee et al. Association of common and rare variants with Alzheimer's disease in more than 13,000 diverse individuals with whole‐genome sequencing from the Alzheimer's Disease Sequencing Project
Cole et al. Rare variants in ischemic stroke: an exome pilot study
Al Dhaheri et al. KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations
Douville et al. Polygenic score for the prediction of postoperative nausea and vomiting: A retrospective derivation and validation cohort study
Ba et al. Surfing the big data wave: omics data challenges in transplantation
Zhang et al. Protein-truncating variant in APOL3 increases chronic kidney disease risk in epistasis with APOL1 risk alleles
Han et al. Whole-genome sequencing analysis of suicide deaths integrating brain-regulatory eQTLs data to identify risk loci and genes
Jadhav et al. A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability
Koko et al. Exome sequencing of UK birth cohorts
Talebizadeh et al. A novel stratification method in linkage studies to address inter-and intra-family heterogeneity in autism
Weisburd et al. Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets
Martins et al. SUDEP risk is influenced by longevity genomics: a polygenic risk score study
Bureau et al. Inferring disease risk genes from sequencing data in multiplex pedigrees through sharing of rare variants
Epi4K and EPGP Investigators De novo mutations in the classic epileptic encephalopathies
Shi et al. Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient
US20200082947A1 (en) Methods and Systems for Pedigree Enrichment and Family-Based Analyses Within Pedigrees
Suresh et al. Enrichment of tandem repeat element variants near CHD genes identified by short-and long-read genome sequencing

Legal Events

Date Code Title Description
MK1 Application lapsed section 142(2)(a) - no request for examination in relevant period