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Published in 2017 at "Human Mutation"
DOI: 10.1002/humu.23238
Abstract: Next‐generation sequencing is radically changing how DNA diagnostic laboratories operate. What started as a single‐gene profession is now developing into gene panel sequencing and whole‐exome and whole‐genome sequencing (WES/WGS) analyses. With further advances in sequencing…
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Keywords:
accurate human;
human genome;
genome analysis;
points accurate ... See more keywords