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Paper Details

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection.
Hum Mutat
6
2019
(MHC) regions, 13 bp duplication, GRCh37 reference genome, MHC, MHC contigs, SYNGAP1, c, c.435_447dup, developmental and epileptic encephalopathy, hg19 reference genome, human, major histocompatibility complex, pathogenic variants, patients
Author NameAffiliation
Mark J CowleyKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research
Mark J CowleySt Vincent's Clinical School, University of New South Wales
Melanie BahloWalter and Eliza Hall Institute
Melanie BahloThe University of Melbourne
Ingrid E SchefferEpilepsy Research Centre, University of Melbourne
Ingrid E SchefferUniversity of Melbourne, Royal Children's Hospital
Ingrid E SchefferFlorey Institute
Marcel E DingerKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research
Marcel E DingerSt Vincent's Clinical School, University of New South Wales
Tony RoscioliCentre for Clinical Genetics, Sydney Children's Hospital
Tony RoscioliPrince of Wales Clinical School, University of New South Wales
Tony RoscioliUniversity of New South Wales
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