Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome-Reference-Cited by-同舟云学术

Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome

Published:2014-07-16 Issue:10 Volume:164 Page:2649-2655
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Watson Christopher M.¹²^ORCID,Crinnion Laura A.¹²,Tzika Antigoni¹,Mills Alison¹,Coates Andrea¹,Pendlebury Maria¹,Hewitt Sarah¹,Harrison Sally M.²,Daly Catherine²,Roberts Paul¹,Carr Ian M.²,Sheridan Eamonn G.¹²,Bonthron David T.¹²

Affiliation:

1. Yorkshire Regional Genetics Service; St. James's University Hospital; Leeds United Kingdom

2. School of Medicine; University of Leeds; St. James's University Hospital; Leeds United Kingdom

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36679/fullpdf

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