Article

Prioritization of genes driving congenital phenotypes of patients with <i>de novo</i> genomic structural variants

2019-07-18

Abstract excerpt

<h4>Background</h4> Genomic structural variants (SVs) can affect many genes and regulatory elements. Therefore, the molecular mechanisms driving the phenotypes of patients with multiple congenital abnormalities and/or intellectual disability carrying de novo SVs are frequently unknown. <h4>Results</h4> We applied a combination of systematic experimental and bioinformatic methods to improve the molecular diagno...

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Literature Corpus work: 0f20bf0b-655d-579a-b3f2-ca776934227a
DOI: 10.1101/707430

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