Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant‐Filtering Interface-Reference-Cited by-同舟云学术

Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant‐Filtering Interface

Published:2014-03-17 Issue:4 Volume:35 Page:434-441
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Watson Christopher M.¹,Crinnion Laura A.¹,Morgan Joanne E.²,Harrison Sally M.²,Diggle Christine P.²,Adlard Julian¹,Lindsay Helen A.¹,Camm Nick¹,Charlton Ruth¹,Sheridan Eamonn²,Bonthron David T.²,Taylor Graham R.³,Carr Ian M.²

Affiliation:

1. Yorkshire Regional Genetics Service St. James's University Hospital Leeds LS9 7TF United Kingdom

2. School of Medicine University of Leeds St. James's University Hospital Leeds LS9 7TF United Kingdom

3. Department of Pathology University of Melbourne Melbourne VIC 3010 Australia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.22490

Reference18 articles.

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3. Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

4. ChakiM GeeHY OttoEA DiazK HurdTW HalbritterJ AllenSJ ZariwalaMB KnowlesMR HildebrandtF.Whole exome resequencing identifies mutations in LRRC6 as a novel single‐gene cause of primary cliary dyskinesia. (Abstract/Program #406). Presented at the 62nd Annual Meeting of The American Society of Human Genetics San Francisco.

5. A framework for variation discovery and genotyping using next-generation DNA sequencing data

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