Opportunities and challenges for the computational interpretation of rare variation in clinically important genes-Reference-Cited by-同舟云学术

Opportunities and challenges for the computational interpretation of rare variation in clinically important genes

Published:2021-04 Issue:4 Volume:108 Page:535-548
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

McInnes Gregory,Sharo Andrew G.,Koleske Megan L.,Brown Julia E.H.,Norstad Matthew,Adhikari Aashish N.,Wang Sheng,Brenner Steven E.,Halpern Jodi,Koenig Barbara A.,Magnus David C.,Gallagher Renata C.,Giacomini Kathleen M.,Altman Russ B.

Funder

National Science Foundation

National Institutes of Health

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference108 articles.

1. The role of exome sequencing in newborn screening for inborn errors of metabolism;Adhikari;Nat. Med.,2020

2. 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;Richards;Genet. Med.,2015

3. Deep learning can predict microsatellite instability directly from histology in gastrointestinal cancer;Kather;Nat. Med.,2019

4. Strategic vision for improving human health at The Forefront of Genomics;Green;Nature,2020

5. Pharmacogenomics and big genomic data: from lab to clinic and back again;Lavertu;Hum. Mol. Genet.,2018

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