MX2020006251A - Deteccion de deleciones y variaciones en el numero de copias en secuencias de adn. - Google Patents

Deteccion de deleciones y variaciones en el numero de copias en secuencias de adn.

Info

Publication number
MX2020006251A
MX2020006251A MX2020006251A MX2020006251A MX2020006251A MX 2020006251 A MX2020006251 A MX 2020006251A MX 2020006251 A MX2020006251 A MX 2020006251A MX 2020006251 A MX2020006251 A MX 2020006251A MX 2020006251 A MX2020006251 A MX 2020006251A
Authority
MX
Mexico
Prior art keywords
deletion
short read
segment positioned
length
deletions
Prior art date
Application number
MX2020006251A
Other languages
English (en)
Inventor
Velina Kozareva
Nigel Delaney
Original Assignee
Ancestry Com Dna Llc
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 Ancestry Com Dna Llc filed Critical Ancestry Com Dna Llc
Publication of MX2020006251A publication Critical patent/MX2020006251A/es

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
    • 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
    • G16B20/10—Ploidy or copy number detection
    • 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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10—Sequence alignment; Homology search
    • 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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/20—Sequence assembly

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Medical Informatics (AREA)
  • Biophysics (AREA)
  • Theoretical Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Chemical & Material Sciences (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (AREA)
  • Evolutionary Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Analytical Chemistry (AREA)
  • Molecular Biology (AREA)
  • Genetics & Genomics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)

Abstract

Se proporcionan métodos y sistemas para detección mejorada de una deleción predefinida relativamente grande que utiliza secuenciación corta de exorna de lectura. Se pueden obtener secuencias cortas de exorna de lectura de segmentos de exorna continuas de un genoma que cada uno tiene una longitud de pares de bases que es menor o igual que un valor umbral. Una secuencia diana de un genoma de referencia se puede almacenar que tiene una deleción predefinida de una secuencia de referencia que tiene una longitud de pares de bases que es relativamente mayor que el vabr umbral, de modo que un segmento posicionado después de la deleción se desplaza para colindar con un segmento posicionado artes de la deleción. Se pueden detectar casos de secuencias cortas de exorna de lectura que se extienden tanto al segmento posicionado después de la deleción como al segmento posicionado artes de la deleción, en donde arriaos segmentos que caen dentro de la longitud relativamente menor de las secuencias cortas de exorna de lectura indican que se ha producido la deleción.
MX2020006251A 2017-12-14 2018-12-12 Deteccion de deleciones y variaciones en el numero de copias en secuencias de adn. MX2020006251A (es)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201762598873P 2017-12-14 2017-12-14
US201762598783P 2017-12-14 2017-12-14
PCT/US2018/065241 WO2019118622A1 (en) 2017-12-14 2018-12-12 Detection of deletions and copy number variations in dna sequences

Publications (1)

Publication Number Publication Date
MX2020006251A true MX2020006251A (es) 2020-12-09

Family

ID=66819723

Family Applications (1)

Application Number Title Priority Date Filing Date
MX2020006251A MX2020006251A (es) 2017-12-14 2018-12-12 Deteccion de deleciones y variaciones en el numero de copias en secuencias de adn.

Country Status (7)

Country Link
US (1) US20200327957A1 (es)
EP (1) EP3724883A4 (es)
AU (1) AU2018384737A1 (es)
CA (1) CA3085739A1 (es)
MX (1) MX2020006251A (es)
NZ (1) NZ766149A (es)
WO (1) WO2019118622A1 (es)

Families Citing this family (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP3803879A4 (en) * 2018-06-06 2022-10-05 Myriad Women's Health, Inc. COPY NUMBER VARIANT CALLER
CN111583998B (zh) * 2020-05-06 2023-05-02 西安交通大学 一种考虑拷贝数变异因素的基因组结构变异分型方法
CN112201306B (zh) * 2020-09-21 2024-06-04 广州金域医学检验集团股份有限公司 基于高通量测序的真假基因突变分析方法及应用
CN113257353B (zh) * 2021-06-24 2021-10-15 北京橡鑫生物科技有限公司 基于reads深度进行目的基因外显子水平缺失检测的方法及装置
CN113652474B (zh) * 2021-08-26 2023-09-01 胜亚生物科技(厦门)有限公司 一种dmd基因外显子拷贝数变异的检测方法及其应用
CN117012274B (zh) * 2023-10-07 2024-01-16 北京智因东方转化医学研究中心有限公司 基于高通量测序识别基因缺失的装置

Family Cites Families (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR101795124B1 (ko) * 2012-04-05 2017-12-01 비지아이 다이어그노시스 씨오., 엘티디. 복제 수 변이를 검측하기 위한 방법 및 시스템
CN107368708B (zh) * 2017-08-14 2018-03-16 东莞博奥木华基因科技有限公司 一种精准分析dmd基因结构变异断点的方法及系统

Also Published As

Publication number Publication date
EP3724883A4 (en) 2021-09-01
CA3085739A1 (en) 2019-06-20
AU2018384737A1 (en) 2020-07-30
US20200327957A1 (en) 2020-10-15
WO2019118622A1 (en) 2019-06-20
NZ766149A (en) 2020-07-31
EP3724883A1 (en) 2020-10-21

Similar Documents

Publication Publication Date Title
MX2020006251A (es) Deteccion de deleciones y variaciones en el numero de copias en secuencias de adn.
IL265928B (en) Method and systems for representing and processing bioinformatics information by using reference sequences
MX2022010611A (es) Identificacion libre de bisulfito de modificaciones de citosina por resolucion de base.
DK3348636T3 (da) Fremgangsmåde til modificering af en genomsekvens, der specifikt omdanner nukleobasen af en targetteret DNA-sekvens, og molekylær sekvens anvendt i fremgangsmåden
PH12018501159A1 (en) Composition and methods for immunooncology
IL252501B (en) Methods and systems for detecting malicious code
GB202108893D0 (en) Cryptocurrency based malware and ransomware detection systems and methods
EP4303314A3 (en) Polypeptide tagged nucleotides and use thereof in nucleic acid sequencing by nanopore detection
MX2017005267A (es) Metodos y composiciones para la secuenciacion de acidos nucleicos seleccionados como diana.
GB2540298A (en) Signature retrieval and matching for media monitoring
MX2019006734A (es) Sistemas y metodos para secuenciar receptores de linfocitos t, y usos de estos.
MX2015011208A (es) Un componente de terminacion con deteccion de posicion.
EP3161650A4 (en) Method and apparatus of usb 3.1 retimer presence detect and index
HK1250171A1 (zh) 使用環化的配對文庫和鳥槍測序檢測基因組變異的方法
JO3488B1 (ar) مثبط أرورا a كيناز
IL280357A (en) Data warehousing system and process
MX2021013302A (es) Nucleasas programables y metodos de uso.
GB2540911A (en) Method and system for signal processing
EP3383797A4 (en) RECOVERY OF MINERAL PRODUCTS WITH BORONIC ACIDIC POLYMERS
MX2018004063A (es) Secuencias recombinantes de cromosoma b de maíz y sus usos.
EP3947674A4 (en) METHODS, SYSTEMS AND APPARATUS FOR NUCLEIC ACID DETECTION
MX2017010567A (es) Dimetoxifenilos como inhibidores del transportador de monoamina vesicular 2.
SG11201707779XA (en) Systems and methods for detecting copied computer code using fingerprints
IL271151A (en) Genetically modified algae, their sequences and methods
WO2018211329A3 (en) DETECTION OF EPIGENETIC MODIFICATIONS