Exome variant discrepancies due to reference-genome differences-Reference-Cited by-同舟云学术

Exome variant discrepancies due to reference-genome differences

Published:2021-07 Issue:7 Volume:108 Page:1239-1250
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Li He,Dawood Moez,Khayat Michael M.,Farek Jesse R.,Jhangiani Shalini N.,Khan Ziad M.,Mitani Tadahiro,Coban-Akdemir Zeynep,Lupski James R.,Venner Eric,Posey Jennifer E.,Sabo Aniko,Gibbs Richard A.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference56 articles.

1. Clinical whole-exome sequencing for the diagnosis of mendelian disorders;Yang;N. Engl. J. Med.,2013

2. Diagnostic clinical genome and exome sequencing;Biesecker;N. Engl. J. Med.,2014

3. Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature;Smith;Genet. Med.,2019

4. Clinical utility of genomic sequencing: a measurement toolkit;Hayeems;NPJ Genom. Med.,2020

5. Molecular findings among patients referred for clinical whole-exome sequencing;Yang;JAMA,2014

Cited by 42 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Application of multiple mosaic callers improves post-zygotic mutation detection from exome sequencing data;Genetics in Medicine;2024-10

2. Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG);Genetics in Medicine;2024-07

3. Impact of genome build on RNA-seq interpretation and diagnostics;The American Journal of Human Genetics;2024-07

4. Aspiring toward equitable benefits from genomic advances to individuals of ancestrally diverse backgrounds;The American Journal of Human Genetics;2024-05

5. Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review;npj Genomic Medicine;2024-02-27