Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
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Cites methods from "Evaluation of GRCh38 and de novo ha..."
...Over the last two years mouse annotation has been dominated by the clone-by-clone approach while the human genome has been refined entirely via targeted reannotation except for the annotation of human assembly patches and haplotypes released by the Genome Reference Consortium (15), which take a clone-by-clone approach....
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References
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"Evaluation of GRCh38 and de novo ha..." refers background in this paper
...The human reference genome assembly remains a critical resource for the biological and clinical research communities (International Human Genome Sequencing Consortium 2004; Lander et al. 2001)....
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"Evaluation of GRCh38 and de novo ha..." refers methods in this paper
...In one analysis, we aligned reads from the Ashkenazi female sample NA24143 (Zook et al. 2016) with BWA-MEM (Li 2013) and evaluated ClinVar sites that have coverage with at least one MAPQ 20 or greater alignment in the GRCh37 and GRCh38 primary assemblies....
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7,710 citations