Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion-Reference-Cited by-同舟云学术

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

Published:2018-09-07 Issue:11 Volume:39 Page:1517-1524
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Abou Tayoun Ahmad N.¹²^ORCID,Pesaran Tina³,DiStefano Marina T.⁴,Oza Andrea⁴^ORCID,Rehm Heidi L.⁴⁵⁶^ORCID,Biesecker Leslie G.⁷,Harrison Steven M.⁴^ORCID,

Affiliation:

1. The Children's Hospital of Philadelphia Philadelphia Pennsylvania

2. The University of Pennsylvania Perelman School of Medicine Philadelphia Pennsylvania

3. Ambry Genetics Aliso Viejo California

4. Laboratory for Molecular MedicinePartners Healthcare Personalized Medicine Cambridge Massachusetts

5. Center for Genomic MedicineMassachusetts General Hospital Boston Massachusetts

6. The Broad Institute of MIT and Harvard Cambridge Massachusetts

7. Medical Genomics and Metabolic Genetics BranchNational Human Genome Research InstituteNational Institutes of Health Bethesda Maryland

Funder

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23626

Reference24 articles.

1. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

2. Alternative translation start sites are conserved in eukaryotic genomes

3. The UCSC Genome Browser database: 2018 update;Casper J.;Nucleic Acids Research,2018

4. The Nonsense-Mediated Decay RNA Surveillance Pathway

5. Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants

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