通过“十万基因组计划”临床诊断流程，利用双向全基因组测序在遗传性出血性毛细血管扩张症中鉴定出低水平镶嵌现象。 - Suppr

Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline.

作者信息

Clarke Jessica M, Alikian Mary, Xiao Sihao, Kasperaviciute Dalia, Thomas Ellen, Turbin Isobel, Olupona Kike, Cifra Elna, Curetean Emanuel, Ferguson Teena, Redhead Julian, Shovlin Claire L

机构信息

West London Genomic Medicine Centre, Imperial College Healthcare NHS Trust, London, UK.

Genomics England Respiratory Clinical Interpretation Partnership (GeCIP), London, UK.

出版信息

J Med Genet. 2020 Dec;57(12):859-862. doi: 10.1136/jmedgenet-2019-106794. Epub 2020 Apr 17.

DOI:10.1136/jmedgenet-2019-106794

PMID:32303606

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7691802/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a38/7691802/68632f3357da/jmedgenet-2019-106794f01.jpg

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Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline.通过“十万基因组计划”临床诊断流程，利用双向全基因组测序在遗传性出血性毛细血管扩张症中鉴定出低水平镶嵌现象。

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本文引用的文献

Somatic mutation and clonal expansions in human tissues.体细胞突变和人类组织中的克隆扩展。

Genome Med. 2019 May 28;11(1):35. doi: 10.1186/s13073-019-0648-4.

European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT).欧洲罕见血管疾病参考网络（VASCERN）遗传性出血性毛细血管扩张症（HHT）结局指标。

Orphanet J Rare Dis. 2018 Aug 15;13(1):136. doi: 10.1186/s13023-018-0850-2.

Tissue-specific mosaicism in hereditary hemorrhagic telangiectasia: Implications for genetic testing in families.遗传性出血性毛细血管扩张症中的组织特异性嵌合现象：对家族基因检测的意义

Am J Med Genet A. 2018 Jul;176(7):1618-1621. doi: 10.1002/ajmg.a.38695. Epub 2018 May 7.

ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia.遗传性出血性毛细血管扩张症家族中的ENG突变嵌合体

Mol Genet Genomic Med. 2018 Jan;6(1):121-125. doi: 10.1002/mgg3.361. Epub 2017 Dec 14.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

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Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline.

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