Article

Pooled-parent exome sequencing to prioritise <i>de novo</i> variants in genetic disease

2019-04-07

Abstract excerpt

In the clinical setting, exome sequencing has become standard-of-care in diagnosing rare genetic disorders, however many patients remain unsolved. Trio sequencing has been demonstrated to produce a higher diagnostic yield than singleton (proband-only) sequencing. Parental sequencing is especially useful when a disease is suspected to be caused by a de novo variant in the proband, because parental data provide a s...

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Literature Corpus work: 0e0cde30-1877-5ba2-902e-7c3c2547122d
DOI: 10.1101/601740

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