Digging into the Unknowns of the Human Genome Sequence: The T2T‐CHM13 Reference Assembly Release
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders"
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
excluderanges: exclusion sets for T2T-CHM13, GRCm39, and other genome assemblies
Sign Up to like & getrecommendations! Published in 2022 at "Bioinformatics"
DOI: 10.1093/bioinformatics/btad198
Abstract: Summary Exclusion regions are sections of reference genomes with abnormal pileups of short sequencing reads. Removing reads overlapping them improves biological signal, and these benefits are most pronounced in differential analysis settings. Several labs created… read more here.
Keywords: exclusion; exclusion sets; grcm39; genome assemblies ... See more keywords