Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome-Reference-Cited by-同舟云学术

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

Published:2017-03-21 Issue:5 Volume:38 Page:517-523
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Carlston Colleen M.¹²,O'Donnell-Luria Anne H.³⁴⁵,Underhill Hunter R.⁶⁷,Cummings Beryl B.³⁴⁸,Weisburd Ben³⁴,Minikel Eric V.³⁴⁸,Birnbaum Daniel P.³⁴,Tvrdik Tatiana²,MacArthur Daniel G.³⁴,Mao Rong¹²,

Affiliation:

1. Department of Pathology; University of Utah; Salt Lake City Utah

2. ARUP Institute for Clinical and Experimental Pathology; Salt Lake City Utah

3. Analytic and Translational Genetics Unit; Massachusetts General Hospital; Boston Massachusetts

4. Program in Medical and Population Genetics; Broad Institute; Cambridge Massachusetts

5. Division of Genetics and Genomics; Boston Children's Hospital; Boston Massachusetts

6. Department of Pediatrics; Division of Medical Genetics; University of Utah; Salt Lake City Utah

7. Department of Radiology; University of Utah; Salt Lake City Utah

8. Program in Biological and Biomedical Sciences; Harvard Medical School; Boston Massachusetts

Funder

The University of Utah Department of Pathology and ARUP Laboratories

Pfizer/ACMG Foundation Translational Genomic Fellowship

National Institute of General Medical Sciences

National Institute of Diabetes and Digestive and Kidney Diseases

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23203/fullpdf

Reference22 articles.

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2. New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants;Andreasen;European Journal of Human Genetics,2013

3. Mosaic mutations in blood DNA sequence are associated with solid tumor cancers;Artomov;bioRxiv,2016

4. Cancer-associated ASXL1 mutations may act as gain-of-function mutations of the ASXL1-BAP1 complex;Balasubramani;Nature Communications,2015

5. Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases;Chen;Nature Biotechnology,2016

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