Clinical exome sequencing—Mistakes and caveats-Reference-Cited by-同舟云学术

Clinical exome sequencing—Mistakes and caveats

Published:2022-03-15 Issue:8 Volume:43 Page:1041-1055
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Corominas Jordi¹^ORCID,Smeekens Sanne P.¹,Nelen Marcel R.¹,Yntema Helger G.¹²,Kamsteeg Erik‐Jan¹²^ORCID,Pfundt Rolph¹²^ORCID,Gilissen Christian³^ORCID

Affiliation:

1. Department of Human Genetics Radboud University Medical Center Nijmegen the Netherlands

2. Donders Institute for Brain, Cognition and Behaviour Radboud University Medical Center Nijmegen the Netherlands

3. Radboud Institute for Molecular Life Sciences Radboud University Medical Center Nijmegen the Netherlands

Funder

Horizon 2020 Framework Programme

Nederlandse Organisatie voor Wetenschappelijk Onderzoek

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24360

Reference81 articles.

1. Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life

2. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

3. Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage

4. Correction to: Pitfalls of clinical exome and gene panel testing: alternative transcripts

5. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

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