Publications
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Filters: Author is White, Simon and Keyword is Genome, Human [Clear All Filters]
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med. 2019 ;21(9):2135-2144.
. WGSA: an annotation pipeline for human genome sequencing studies. J Med Genet. 2016 ;53(2):111-2.
. Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics. 2015 ;16(1):286.
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