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Whole-genome sequencing of patients with rare diseases in a national health system., , , , , , , , , and 439 other author(s). Nat., 583 (7814): 96-102 (2020)Quantifying single nucleotide variant detection sensitivity in exome sequencing., , , , and . BMC Bioinform., (2013)The genetic legacy of the Mongols., , , , , , , , , and 13 other author(s). American journal of human genetics, 72 (3): 717--721 (March 2003)Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene <italic>DMRT1</italic>, , , , , , , , , and 20 other author(s). PLoS Genet, 9 (3): e1003349 (March 2013)Accurate whole human genome sequencing using reversible terminator chemistry, , , , , , , , , and 184 other author(s). Nature, 456 (7218): 53--59 (November 2008)DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation., , , , , , and . Nucleic Acids Res., 42 (Database-Issue): 993-1000 (2014)VarMap: a web tool for mapping genomic coordinates to protein sequence and structure and retrieving protein structural annotations., , , , and . Bioinform., 35 (22): 4854-4856 (2019)Using population data for assessing next-generation sequencing performance., , , , , , , and . Bioinform., 31 (1): 56-61 (2015)Copy number variation: New insights in genome diversity, , , , , , , , , and 3 other author(s). Genome Research, (2006)