MX2022009582A - Analisis moleculares usando fragmentos largos extracelulares circulantes en el embarazo. - Google Patents

Analisis moleculares usando fragmentos largos extracelulares circulantes en el embarazo.

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Publication number
MX2022009582A
MX2022009582A MX2022009582A MX2022009582A MX2022009582A MX 2022009582 A MX2022009582 A MX 2022009582A MX 2022009582 A MX2022009582 A MX 2022009582A MX 2022009582 A MX2022009582 A MX 2022009582A MX 2022009582 A MX2022009582 A MX 2022009582A
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dna fragments
free dna
cell
snps
cpg sites
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MX2022009582A
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English (en)
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Peiyong Jiang
Kwan Chee Chan
Wenlei Peng
Yuk- Ming Dennis Lo
Rossa Wai Kwun Chiu
Suk Hang Cheng
Cheuk Yin Yu
Yee Ting Cheung
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Univ Hong Kong Chinese
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Publication of MX2022009582A publication Critical patent/MX2022009582A/es

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Abstract

Los métodos y sistemas descritos en la presente implican el uso de fragmentos largos de ADN extracelular circulante para analizar una muestra biológica de una persona gestante. El estado de los sitios de CpG metilados y los polimorfismos de un solo nucleótido (SNP) se usa a menudo para analizar fragmentos de ADN de una muestra biológica. Un sitio CpG y un SNP suelen estar separados del sitio CpG o SNP más cercano por cientos o miles de pares de bases. Es improbable o imposible encontrar dos o más sitios de CpG o SNP consecutivos en la mayoría de los fragmentos de ADN extracelular circulante. Los fragmentos de ADN extracelular circulante de más de 600 pb pueden incluir múltiples sitios de CpG y/o SNP. La presencia de múltiples sitios de CpG y/o SNP en fragmentos largos de ADN extracelular circulante puede permitir un análisis que solo con fragmentos cortos de ADN extracelular circulante. Los fragmentos largos de ADN extra-celular circulante pueden usarse para identificar un tejido de origen y/o proporcionar información sobre un feto en una mujer embarazada.
MX2022009582A 2020-02-05 2021-02-05 Analisis moleculares usando fragmentos largos extracelulares circulantes en el embarazo. MX2022009582A (es)

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US202062970634P 2020-02-05 2020-02-05
US202163135486P 2021-01-08 2021-01-08
PCT/CN2021/075394 WO2021155831A1 (en) 2020-02-05 2021-02-05 Molecular analyses using long cell-free fragments in pregnancy

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US (3) US20210265007A1 (es)
EP (1) EP4069864A4 (es)
JP (3) JP7311934B2 (es)
KR (2) KR20230113840A (es)
CN (2) CN115066504A (es)
AU (3) AU2021216616B2 (es)
BR (2) BR112022015073A2 (es)
CA (1) CA3164433A1 (es)
GB (4) GB2605736B (es)
IL (3) IL303888A (es)
MX (2) MX2022009582A (es)
NZ (1) NZ790326A (es)
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Families Citing this family (8)

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Publication number Priority date Publication date Assignee Title
US20210265007A1 (en) 2020-02-05 2021-08-26 The Chinese University Of Hong Kong Molecular analyses using long cell-free fragments in pregnancy
US20230279498A1 (en) * 2021-11-24 2023-09-07 Centre For Novostics Limited Molecular analyses using long cell-free dna molecules for disease classification
US20230313314A1 (en) * 2022-02-07 2023-10-05 Centre For Novostics Limited Fragmentation for measuring methylation and disease
US20230366007A1 (en) * 2022-05-10 2023-11-16 Centre For Novostics Limited Analysis of nucleic acids associated with extracellular vesicles
KR20230172174A (ko) * 2022-06-15 2023-12-22 주식회사 지씨지놈 무세포 핵산의 단일염기변이를 이용한 암 진단 및 암 종 예측방법
CN114898802B (zh) * 2022-07-14 2022-09-30 臻和(北京)生物科技有限公司 基于血浆游离dna甲基化测序数据的末端序列频率分布特征确定方法、评价方法及装置
WO2024044749A1 (en) * 2022-08-26 2024-02-29 Fred Hutchinson Cancer Center Cell-free dna sequence data analysis techniques for estimating fetal fraction and predicting preeclampsia
WO2024049915A1 (en) * 2022-08-30 2024-03-07 The General Hospital Corporation High-resolution and non-invasive fetal sequencing

Family Cites Families (23)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20070111233A1 (en) * 2003-10-30 2007-05-17 Bianchi Diana W Prenatal diagnosis using cell-free fetal DNA in amniotic fluid
CN102770558B (zh) 2009-11-05 2016-04-06 香港中文大学 由母本生物样品进行胎儿基因组的分析
EA034241B1 (ru) * 2009-11-06 2020-01-21 Те Чайниз Юниверсити Ов Гонконг Способ пренатальной диагностики дисбаланса последовательности
AU2010336017B2 (en) * 2009-12-23 2016-04-28 Genetic Technologies Limited Methods of enriching and detecting fetal nucleic acids
AU2015203579B2 (en) * 2010-01-19 2017-12-21 Verinata Health, Inc. Sequencing methods and compositions for prenatal diagnoses
US9323888B2 (en) * 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
US9892230B2 (en) 2012-03-08 2018-02-13 The Chinese University Of Hong Kong Size-based analysis of fetal or tumor DNA fraction in plasma
TWI813141B (zh) * 2014-07-18 2023-08-21 香港中文大學 Dna混合物中之組織甲基化模式分析
EP4092680A1 (en) * 2014-09-12 2022-11-23 Illumina Cambridge Limited Detecting repeat expansions with short read sequencing data
WO2016049877A1 (zh) * 2014-09-30 2016-04-07 深圳华大基因股份有限公司 无创产前亲子鉴定中基于str分型技术的检测方法和系统
CA2965500A1 (en) * 2014-10-24 2016-04-28 Abbott Molecular Inc. Enrichment of small nucleic acids
US10319463B2 (en) * 2015-01-23 2019-06-11 The Chinese University Of Hong Kong Combined size- and count-based analysis of maternal plasma for detection of fetal subchromosomal aberrations
EP3739061B1 (en) * 2015-07-20 2022-03-23 The Chinese University Of Hong Kong Methylation pattern analysis of haplotypes in tissues in dna mixture
CN114999567A (zh) * 2015-07-23 2022-09-02 香港中文大学 游离dna的片段化模式的分析
US10095831B2 (en) * 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
EP4209598A1 (en) * 2016-10-19 2023-07-12 The Chinese University of Hong Kong Gestational age assessment by methylation and size profiling of maternal plasma dna
WO2018090991A1 (en) 2016-11-18 2018-05-24 The Chinese University Of Hong Kong Universal haplotype-based noninvasive prenatal testing for single gene diseases
US10858691B2 (en) * 2017-04-18 2020-12-08 Covaris, Inc. Differential shearing of nucleic acids
US11168356B2 (en) * 2017-11-02 2021-11-09 The Chinese University Of Hong Kong Using nucleic acid size range for noninvasive cancer detection
CA3105349A1 (en) * 2018-05-03 2019-11-07 The Chinese University Of Hong Kong Size-tagged preferred ends and orientation-aware analysis for measuring properties of cell-free mixtures
US11926821B2 (en) * 2018-10-22 2024-03-12 The Chinese University Of Hong Kong Cell-free DNA quality
CN109402247B (zh) * 2018-11-06 2020-04-07 苏州首度基因科技有限责任公司 一种基于dna变异计数的胎儿染色体检测系统
US20210265007A1 (en) 2020-02-05 2021-08-26 The Chinese University Of Hong Kong Molecular analyses using long cell-free fragments in pregnancy

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US20210265007A1 (en) 2021-08-26
GB202313363D0 (en) 2023-10-18
GB202305176D0 (en) 2023-05-24
US11591642B2 (en) 2023-02-28
KR102662186B1 (ko) 2024-05-07
KR20230113840A (ko) 2023-08-01
JP2023504939A (ja) 2023-02-07
JP2023123759A (ja) 2023-09-05
US20220275433A1 (en) 2022-09-01
MX2022009820A (es) 2022-09-05
WO2021155831A1 (en) 2021-08-12
CN116004786A (zh) 2023-04-25
US11371084B2 (en) 2022-06-28
IL294431B2 (en) 2023-05-01
GB202405740D0 (en) 2024-06-05
IL298811A (en) 2023-02-01
CA3164433A1 (en) 2021-08-12
IL294431A (en) 2022-09-01
BR112022015073A2 (pt) 2022-11-16
TWI784407B (zh) 2022-11-21
GB202209581D0 (en) 2022-08-10
JP7416501B2 (ja) 2024-01-17
GB2614994A (en) 2023-07-26
GB2605736A (en) 2022-10-12
AU2024201092A1 (en) 2024-03-14
JP2024045112A (ja) 2024-04-02
NZ790326A (en) 2023-07-28
IL303888A (en) 2023-08-01
TWI835367B (zh) 2024-03-11
TW202307216A (zh) 2023-02-16
AU2023204613A1 (en) 2023-08-03
GB2605736B (en) 2023-05-24
EP4069864A1 (en) 2022-10-12
BR122022015680A2 (pt) 2022-12-06
GB2620304A (en) 2024-01-03
IL298811B1 (en) 2023-07-01
AU2021216616A1 (en) 2022-07-21
US20210254142A1 (en) 2021-08-19
AU2021216616B2 (en) 2023-04-20
EP4069864A4 (en) 2023-01-25
IL298811B2 (en) 2023-11-01
AU2023204613B2 (en) 2023-11-23
KR20220118551A (ko) 2022-08-25
IL294431B1 (en) 2023-01-01
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CN115066504A (zh) 2022-09-16
GB2620304B (en) 2024-06-19
GB2614994B (en) 2023-10-18
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