Performance evaluation of pathogenicity-computation methods for missense variants-Reference-Cited by-同舟云学术

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Performance evaluation of pathogenicity-computation methods for missense variants

Published:2018-07-28 Issue:15 Volume:46 Page:7793-7804
ISSN:0305-1048
Container-title:Nucleic Acids Research
language:en
Short-container-title:

Author:

Li Jinchen¹²,Zhao Tingting¹,Zhang Yi¹,Zhang Kun¹,Shi Leisheng¹,Chen Yun¹,Wang Xingxing¹,Sun Zhongsheng¹³^ORCID

Affiliation:

1. Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang 325025, China

2. National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China

3. Beijing Institutes of Life Science, Chinese Academy of Sciences, Beijing 100101, China

Funder

National Key R&D Program of China

National Natural Science Foundation of China

Publisher

Oxford University Press (OUP)

Subject

Genetics

Link

http://academic.oup.com/nar/article-pdf/46/15/7793/25690336/gky678.pdf

Reference52 articles.

1. The promise of whole-exome sequencing in medical genetics;Rabbani;J. Hum. Genet.,2014

2. Coming of age: ten years of next-generation sequencing technologies;Goodwin;Nat. Rev. Genet.,2016

3. Analysis of protein-coding genetic variation in 60,706 humans;Lek;Nature,2016

4. Rare-disease genetics in the era of next-generation sequencing: discovery to translation;Boycott;Nat. Rev. Genet.,2013

5. Guidelines for investigating causality of sequence variants in human disease;MacArthur;Nature,2014

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3. Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant;European Journal of Human Genetics;2024-08-21

4. Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene;European Journal of Human Genetics;2024-06-07

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