Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant‐Filtering Interface. Issue 4 (April 2014)

• Record Type: Journal Article
• Authors: Watson, Christopher M.; Crinnion, Laura A.; Morgan, Joanne E.; Harrison, Sally M.; Diggle, Christine P.; Adlard, Julian; Lindsay, Helen A.; Camm, Nick; Charlton, Ruth; Sheridan, Eamonn; Bonthron, David T.; Taylor, Graham R.; Carr, Ian M.
• Is Part Of: Human mutation. Volume 35:Issue 4(2014:Apr.)
• Page Start: 434
• Page End: 441
• Publication Date: 2014-04
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22490
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22490-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We present two programs, <italic>AgileExomeFilter</italic> and <italic>AgilePindelFilter</italic>, which enable clinical scientists to rapidly and efficiently filter variants from next generation sequencing data. Using these tools a high diagnostic yield (42%) was obtained in a cohort of 24 primary ciliary dyskinesia (PCD) patients that underwent targeted exome analysis. Autozygosity mapping in the mutation negative cases revealed a homozygous truncating mutation in <italic>DNAH8</italic>, a presumptive new PCD gene. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg4sxjtk87" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>