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Chunk #41 — Methods — Sequence data processing and variant calling

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Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.
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minimal depth of more than 10× were phased using Eagle 2.481. Sample-level quality control included checks for pedigree errors, discrepancies between self-reported and genetic sex, and concordance with previous genotyping array data. Any errors detected were addressed before dbGaP submission. Details regarding WGS data acquisition, processing and quality control vary among the TOPMed data freezes. Freeze-specific methods are described on the TOPMed website (https://www.nhlbiwgs.org/data-sets) and in documents included in each TOPMed accession released on dbGaP (for example, see document phd008024.1 in phs000956.v4.p1).