对500名患有罕见病的巴西患者进行外显子组测序：我们所了解到的情况。 - Suppr

Exome sequencing of 500 Brazilian patients with rare diseases: what we have learned.

作者信息

Quaio Caio Robledo D'Angioli Costa, Moreira Caroline Monaco, Chung Christine Hsiaoyun, Perazzio Sandro Felix, Dutra Aurelio Pimenta, Kim Chong Ae

机构信息

MD. Researcher and PhD Candidate, Instituto da Criança (ICr), Hospital das Clinicas HCFMUSP, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, BR.

Medical Geneticist, Fleury Medicina e Saúde, São Paulo (SP), Brazil.

出版信息

Sao Paulo Med J. 2022 Sep-Oct;140(5):734-736. doi: 10.1590/1516-3180.2022.0076.R1.21072022.

DOI:10.1590/1516-3180.2022.0076.R1.21072022

PMID:36102462

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9514873/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d625/9514873/3f305a039b57/1806-9460-1516-3180-2022-0076-R1-21072022-gf01.jpg

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Exome sequencing of 500 Brazilian patients with rare diseases: what we have learned.对500名患有罕见病的巴西患者进行外显子组测序：我们所了解到的情况。

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The clinical utility of whole-exome sequencing in the context of rare diseases - the changing tides of medical practice.全外显子组测序在罕见病背景下的临床应用——医学实践的变化趋势

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Exome sequencing a review of new strategies for rare genomic disease research.外显子组测序：罕见基因组疾病研究新策略综述

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Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies.最优统一方法用于罕见变异关联测试及其在小样本病例对照全外显子测序研究中的应用。

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Frequency of carriers for rare metabolic diseases in a Brazilian cohort of 320 patients.巴西 320 例患者队列中罕见代谢疾病携带者的频率。

Mol Biol Rep. 2022 May;49(5):3911-3918. doi: 10.1007/s11033-022-07241-3. Epub 2022 Feb 28.

Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients.巴西 320 名患者队列中罕见隐性孟德尔疾病携带者的频率。

Am J Med Genet C Semin Med Genet. 2021 Sep;187(3):364-372. doi: 10.1002/ajmg.c.31932. Epub 2021 Jul 16.

Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.外显子组测序在 500 例罕见病患者队列中的诊断效能和临床影响。

Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):955-964. doi: 10.1002/ajmg.c.31860. Epub 2020 Nov 30.

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.临床外显子组和基因组测序中次要发现报告的建议，2016年更新版（美国医学遗传学与基因组学学会次要发现v2.0）：美国医学遗传学与基因组学学会政策声明

Genet Med. 2017 Feb;19(2):249-255. doi: 10.1038/gim.2016.190. Epub 2016 Nov 17.

The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.外显子组测序中家族性偶然发现的意义：美国国立卫生研究院未确诊疾病项目的经验

Genet Med. 2014 Oct;16(10):741-50. doi: 10.1038/gim.2014.29. Epub 2014 May 1.

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.个体外显子组测序中的二级变体：对 572 个人进行筛查，鉴定出癌症易感性基因中的高外显率突变。

Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

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Exome sequencing of 500 Brazilian patients with rare diseases: what we have learned.

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