Identification of de novo germline mutations and causal genes for sporadic diseases using trio‐based whole‐exome/genome sequencing
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DOI: 10.1111/brv.12383
Abstract: Whole‐genome or whole‐exome sequencing (WGS/WES) of the affected proband together with normal parents (trio) is commonly adopted to identify de novo germline mutations (DNMs) underlying sporadic cases of various genetic disorders. However, our current knowledge… read more here.
Keywords: trio based; whole exome; novo germline; identification ... See more keywords