Need for revision of the ACMG/AMP guidelines for interpretation of X-linked variants-Reference-Cited by-同舟云学术

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Need for revision of the ACMG/AMP guidelines for interpretation of X-linked variants

Published:2022-08-31 Issue:3 Volume:11 Page:120-124
ISSN:2186-361X
Container-title:Intractable & Rare Diseases Research
language:en
Short-container-title:IRDR

Author:

Inoue Yoko¹,Machida Osamu²,Kita Yosuke³,Yamamoto Toshiyuki⁴

Affiliation:

1. Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

2. Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.

3. Department of Psychology, Faculty of Letters, Keio University, Tokyo, Japan.

4. Division of Gene Medicine, Graduate School of Medical Science, Tokyo Women's Medical University, Tokyo, Japan.

Publisher

International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)

Subject

General Medicine

Link

https://www.jstage.jst.go.jp/article/irdr/11/3/11_2022.01067/_pdf

Reference47 articles.

1. 1. Wu AC, McMahon P, Lu C. Ending the diagnostic odyssey-Is whole-genome sequencing the answer? JAMA Pediatr. 2020; 174:821-822.

2. 2. Umlai UI, Bangarusamy DK, Estivill X, Jithesh PV. Genome sequencing data analysis for rare disease gene discovery. Brief Bioinform. 2022; 23:bbab363.

3. 3. Takahashi Y, Date H, Oi H, Adachi T, Imanishi N, Kimura E, Takizawa H, Kosugi S, Matsumoto N, Kosaki K, Matsubara Y; IRUD Consortium, Mizusawa H. Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures. J Hum Genet. 2022. doi: 10.1038/s10038-022-01025-0.

4. 4. Najafi A, Caspar SM, Meienberg J, Rohrbach M, Steinmann B, Matyas G. Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies. Clin Genet. 2020; 97:235-245.

5. 5. Kim YE, Ki CS, Jang MA. Challenges and considerations in sequence variant interpretation for mendelian disorders. Ann Lab Med. 2019; 39:421-429.

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