Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection.
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ABSTRACT:
SUBMITTER: Cowley MJ
PROVIDER: S-EPMC6492103 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Publications
Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection.
Cowley Mark J MJ Liu Yu-Chi YC Oliver Karen L KL Carvill Gemma G Myers Candace T CT Gayevskiy Velimir V Delatycki Martin M Vlaskamp Danique R M DRM Zhu Ying Y Mefford Heather H Buckley Michael F MF Bahlo Melanie M Scheffer Ingrid E IE Dinger Marcel E ME Roscioli Tony T
Human mutation 20190131 4
Rapid advances in genomic technologies have facilitated the identification pathogenic variants causing human disease. We report siblings with developmental and epileptic encephalopathy due to a novel, shared heterozygous pathogenic 13 bp duplication in SYNGAP1 (c.435_447dup, p.(L150Vfs*6)) that was identified by whole genome sequencing (WGS). The pathogenic variant had escaped earlier detection via two methodologies: whole exome sequencing and high-depth targeted sequencing. Both technologies ha ...[more]
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