Digging into the Unknowns of the Human Genome Sequence: The T2T‐CHM13 Reference Assembly Release
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DOI: 10.1002/mds.29235
Abstract: Next-generation sequencing (NGS) has enabled unprecedented gene discovery and dramatically improved molecular diagnostic yields in movement disorders (MDs) and neurodegenerative diseases (NDDs). The human reference genome GRCh38 has hitherto represented the gold standard blueprint for… read more here.
Keywords: human genome; reference; sequence; chm13 ... See more keywords