Article

Whole genome analysis of an extended pedigree with Prader–Willi Syndrome, hereditary hemochromatosis, and dysautonomia-like symptoms

2015-05-11

Abstract excerpt

<h4>ABSTRACT</h4> This report includes the discovery and analysis of a pedigree with Prader–Willi Syndrome (PWS), hereditary hemochromatosis (HH), and dysautonomia-like symptoms. Nine members of the family participated in whole genome sequencing (WGS), which enabled a wide scope of variant calling from single-nucleotide polymorphisms to copy number variations. First, a 5.5 Mb de novo deletion is identified in th...

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Literature Corpus work: 17c3ddaa-a6a8-596a-941a-ca063666fe65
DOI: 10.1101/019182

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