Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies.
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DOI: 10.1093/clinchem/hvac113
Abstract: BACKGROUND Laboratories utilizing next-generation sequencing align sequence data to a standardized human reference genome (HRG). Several updated versions, or builds, have been released since the original HRG in 2001, including the Genome Reference Consortium Human… read more here.
Keywords: reference; next generation; grch38; utilizing next ... See more keywords
Alignment of 1000 Genomes Project reads to reference assembly GRCh38
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DOI: 10.1093/gigascience/gix038
Abstract: Abstract The 1000 Genomes Project produced more than 100 trillion basepairs of short read sequence from more than 2600 samples in 26 populations over a period of five years. In its final phase, the project… read more here.
Keywords: reference assembly; genomes project; 1000 genomes; grch38 ... See more keywords