JP2016526380A5 - - Google Patents

Download PDF

Info

Publication number
JP2016526380A5
JP2016526380A5 JP2016521519A JP2016521519A JP2016526380A5 JP 2016526380 A5 JP2016526380 A5 JP 2016526380A5 JP 2016521519 A JP2016521519 A JP 2016521519A JP 2016521519 A JP2016521519 A JP 2016521519A JP 2016526380 A5 JP2016526380 A5 JP 2016526380A5
Authority
JP
Japan
Prior art keywords
chromosome
computer system
sequence
test sample
reference sequence
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.)
Granted
Application number
JP2016521519A
Other languages
English (en)
Japanese (ja)
Other versions
JP6521956B2 (ja
JP2016526380A (ja
Filing date
Publication date
Application filed filed Critical
Priority claimed from PCT/US2014/042785 external-priority patent/WO2014204991A1/en
Publication of JP2016526380A publication Critical patent/JP2016526380A/ja
Publication of JP2016526380A5 publication Critical patent/JP2016526380A5/ja
Application granted granted Critical
Publication of JP6521956B2 publication Critical patent/JP6521956B2/ja
Expired - Fee Related legal-status Critical Current
Anticipated expiration legal-status Critical

Links

JP2016521519A 2013-06-17 2014-06-17 性染色体におけるコピー数変異を判定するための方法 Expired - Fee Related JP6521956B2 (ja)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201361836057P 2013-06-17 2013-06-17
US61/836,057 2013-06-17
PCT/US2014/042785 WO2014204991A1 (en) 2013-06-17 2014-06-17 Method for determining copy number variations in sex chromosomes

Related Child Applications (1)

Application Number Title Priority Date Filing Date
JP2019081704A Division JP7021148B2 (ja) 2013-06-17 2019-04-23 性染色体におけるコピー数変異を判定するための方法

Publications (3)

Publication Number Publication Date
JP2016526380A JP2016526380A (ja) 2016-09-05
JP2016526380A5 true JP2016526380A5 (enExample) 2017-07-27
JP6521956B2 JP6521956B2 (ja) 2019-05-29

Family

ID=51205579

Family Applications (2)

Application Number Title Priority Date Filing Date
JP2016521519A Expired - Fee Related JP6521956B2 (ja) 2013-06-17 2014-06-17 性染色体におけるコピー数変異を判定するための方法
JP2019081704A Expired - Fee Related JP7021148B2 (ja) 2013-06-17 2019-04-23 性染色体におけるコピー数変異を判定するための方法

Family Applications After (1)

Application Number Title Priority Date Filing Date
JP2019081704A Expired - Fee Related JP7021148B2 (ja) 2013-06-17 2019-04-23 性染色体におけるコピー数変異を判定するための方法

Country Status (8)

Country Link
US (1) US20140371078A1 (enExample)
EP (2) EP3543354B1 (enExample)
JP (2) JP6521956B2 (enExample)
CN (1) CN105722994B (enExample)
AU (1) AU2014281635B2 (enExample)
CA (1) CA2915626A1 (enExample)
IL (1) IL242956B (enExample)
WO (1) WO2014204991A1 (enExample)

Families Citing this family (35)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA2928185C (en) * 2013-10-21 2024-01-30 Verinata Health, Inc. Method for improving the sensitivity of detection in determining copy number variations
EP3149199B1 (en) 2014-05-30 2020-03-25 Verinata Health, Inc. Detecting, optionally fetal, sub-chromosomal aneuploidies and copy number variations
CN107750277B (zh) 2014-12-12 2021-11-09 维里纳塔健康股份有限公司 使用无细胞dna片段大小来确定拷贝数变化
AU2015374344A1 (en) * 2014-12-29 2017-07-06 Myriad Women’s Health, Inc. Method for determining genotypes in regions of high homology
EP3875606A1 (en) * 2015-05-06 2021-09-08 Seracare Life Sciences Inc. Liposomal preparations for non-invasive-prenatal or cancer screening
JP2019500901A (ja) * 2015-12-04 2019-01-17 グリーン クロス ゲノム コーポレーションＧｒｅｅｎ Ｃｒｏｓｓ Ｇｅｎｏｍｅ Ｃｏｒｐｏｒａｔｉｏｎ 核酸の混合物を含むサンプルでコピー数異常を決定する方法
EP3408376B1 (en) 2016-01-31 2025-07-16 Hadasit Medical Research Services and Development Ltd. Autosomal-identical pluripotent stem cell populations having non-identical sex chromosomal composition and uses thereof
US10095831B2 (en) * 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
KR102610098B1 (ko) * 2016-07-06 2023-12-04 가던트 헬쓰, 인크. 무세포 핵산의 프래그멘톰 프로파일링을 위한 방법
WO2018031486A1 (en) * 2016-08-08 2018-02-15 Karius, Inc. Reduction of signal from contaminant nucleic acids
CA3214358A1 (en) * 2016-09-22 2018-03-29 Illumina, Inc Somatic copy number variation detection
TWI603082B (zh) * 2016-09-30 2017-10-21 有勁生物科技股份有限公司 非侵入式胎兒性徵異常檢測系統及其方法與非侵入式胎兒性徵檢測系統及其方法
EP4345168A3 (en) * 2016-11-17 2024-07-31 LGC Clinical Diagnostics, Inc. Methods for preparing dna reference material and controls
CN106845154B (zh) * 2016-12-29 2022-04-08 浙江安诺优达生物科技有限公司 一种用于ffpe样本拷贝数变异检测的装置
US11342047B2 (en) 2017-04-21 2022-05-24 Illumina, Inc. Using cell-free DNA fragment size to detect tumor-associated variant
CN107119145A (zh) * 2017-07-13 2017-09-01 深圳瑞科生物科技有限公司 一种基于ddPCR定量检测ctDNA的方法
CN109390039B (zh) * 2017-08-11 2020-10-16 深圳华大基因股份有限公司 一种统计dna拷贝数信息的方法、装置及存储介质
CN111052249B (zh) * 2017-09-15 2024-04-05 深圳华大智造科技股份有限公司 确定预定染色体保守区域的方法、确定样本基因组中是否存在拷贝数变异的方法、系统和计算机可读介质
US11168356B2 (en) * 2017-11-02 2021-11-09 The Chinese University Of Hong Kong Using nucleic acid size range for noninvasive cancer detection
AU2018367488B2 (en) 2017-11-16 2021-09-16 Illumina, Inc. Systems and methods for determining microsatellite instability
CN108427864B (zh) * 2018-02-14 2019-01-29 南京世和基因生物技术有限公司 一种拷贝数变异的检测方法、装置以及计算机可读介质
US12154661B2 (en) * 2018-03-22 2024-11-26 The Regents Of The University Of Michigan Method and apparatus for analysis of chromatin interaction data
AU2019277698A1 (en) 2018-06-01 2020-11-19 Grail, Llc Convolutional neural network systems and methods for data classification
CN109136371B (zh) * 2018-07-25 2019-11-01 南京世和基因生物技术有限公司 一种放疗疗效和毒性反应相关基因组合、检测探针库以及检测试剂盒
KR102405245B1 (ko) * 2018-07-27 2022-06-07 주식회사 지씨지놈 전장유전체 시퀀싱 기반의 염색체 이상 검출 방법 및 그 용도
US11581062B2 (en) 2018-12-10 2023-02-14 Grail, Llc Systems and methods for classifying patients with respect to multiple cancer classes
WO2020185790A1 (en) * 2019-03-10 2020-09-17 Ultima Genomics, Inc. Methods and systems for sequence calling
CN111755066B (zh) * 2019-03-27 2022-10-18 欧蒙医学诊断（中国）有限公司 一种拷贝数变异的检测方法和实施该方法的设备
CN110534202A (zh) * 2019-08-21 2019-12-03 江南大学附属医院（无锡市第四人民医院） 一种针对Sox10在三阴性乳腺癌中的表达进行分析的系统
AU2021276524A1 (en) 2020-05-22 2023-01-05 Aqtual, Inc. Methods for characterizing cell-free nucleic acid fragments
CN113409885B (zh) * 2021-06-21 2022-09-20 天津金域医学检验实验室有限公司 一种自动化数据处理以及作图方法及系统
CN114420208B (zh) * 2022-02-28 2023-04-18 上海亿康医学检验所有限公司 一种用于鉴定核酸样本中cnv的方法和装置
JP7331325B1 (ja) 2022-08-30 2023-08-23 株式会社seeDNA ２種以上の検査を実施可能な遺伝学的解析方法
CN115273984B (zh) * 2022-09-30 2022-11-29 北京诺禾致源科技股份有限公司 鉴定基因组串联重复区域的方法及装置
CN115394359B (zh) * 2022-10-27 2023-03-24 北京大学第三医院（北京大学第三临床医学院） 一种通过转录组检测单细胞染色体拷贝数变异方法

Family Cites Families (15)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US7235358B2 (en) * 2001-06-08 2007-06-26 Expression Diagnostics, Inc. Methods and compositions for diagnosing and monitoring transplant rejection
EP2081442B1 (en) 2006-10-10 2016-08-10 TrovaGene, Inc. Compositions, methods and kits for isolating nucleic acids from body fluids using anion exchange media
US8262900B2 (en) 2006-12-14 2012-09-11 Life Technologies Corporation Methods and apparatus for measuring analytes using large scale FET arrays
EA201000427A1 (ru) 2007-10-04 2010-10-29 Хэлсион Молекулар Секвенирование нуклеиново-кислотных полимеров с использованием электронной микроскопии
GB0811500D0 (en) * 2008-06-20 2008-07-30 Univ Cardiff Method of determining DNA copy number
WO2011050341A1 (en) * 2009-10-22 2011-04-28 National Center For Genome Resources Methods and systems for medical sequencing analysis
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
EP2848704B1 (en) 2010-01-19 2018-08-29 Verinata Health, Inc Sequencing methods for prenatal diagnoses
WO2011090556A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Methods for determining fraction of fetal nucleic acid in maternal samples
US20120046877A1 (en) * 2010-07-06 2012-02-23 Life Technologies Corporation Systems and methods to detect copy number variation
US20120034603A1 (en) * 2010-08-06 2012-02-09 Tandem Diagnostics, Inc. Ligation-based detection of genetic variants
CA2824387C (en) * 2011-02-09 2019-09-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling
CA2840418C (en) 2011-07-26 2019-10-29 Verinata Health, Inc. Method for determining the presence or absence of different aneuploidies in a sample
US8688388B2 (en) * 2011-10-11 2014-04-01 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9538439B2 (en) * 2013-05-10 2017-01-03 Qualcomm Incorporated Method and apparatus for estimating an achievable link throughput based on assistance information

Similar Documents

Publication Publication Date Title
JP2016526380A5 (enExample)
CN110797089B (zh) 一种基于单细胞rna测序数据识别细胞类型的方法
Ay et al. Statistical confidence estimation for Hi-C data reveals regulatory chromatin contacts
JP2016539630A5 (enExample)
US20200185055A1 (en) Methods and Systems for Nucleic Acid Variant Detection and Analysis
JP2017524374A5 (enExample)
RU2019110756A (ru) Классификация генов на основе фенотипа/заболевания с использованием библиотеки генов и структур данных на основе сети
JP2021503897A5 (enExample)
CA3037366A1 (en) Noninvasive prenatal screening using dynamic iterative depth optimization
JP2019522268A5 (enExample)
US20250308622A1 (en) Methods for predicting transcription factor activity
CN110892484A (zh) 用于识别引起序列特异性错误(sse)的序列图案的基于深度学习的框架
Bhattacharyya et al. MicroRNA transcription start site prediction with multi-objective feature selection
RU2018109529A (ru) Многоуровневая архитектура распознавания паттернов в биологических данных
CN103955630A (zh) 制备参考数据库及对待测游离核酸样本进行目标区域序列比对的方法
CN109615080B (zh) 无监督模型评估方法、装置、服务器及可读存储介质
CN104462817B (zh) 基于蒙特卡洛和非负矩阵因子分解的基因选择和癌症分类方法
JP2016184185A5 (enExample)
CN106021998A (zh) 单通多变体识别计算流水线
CN101894216B (zh) 从snp数据中发现与复杂疾病相关snp组的方法
KR101565005B1 (ko) 비음수 행렬 3-요소분해를 이용한 질병 및 질병 연관 유전자를 예측하는 예측장치 및 방법
CN115497565A (zh) 基于时序数据的pcr扩增曲线阴阳性判断方法
He et al. Forseti: a mechanistic and predictive model of the splicing status of scRNA-seq reads
Galan Martínez et al. Identification of chromatin loops from Hi-C interaction matrices by CTCF-CTCF topology classification
CN116097361A (zh) 用于在来自单细胞分区的多基因组特征数据中鉴定特征连锁的系统和方法