Publications
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Filters: Author is English, Adam C and Keyword is Genomic Structural Variation [Clear All Filters]
Truvari: refined structural variant comparison preserves allelic diversity. Genome Biol. 2022 ;23(1):271.
. A robust benchmark for detection of germline large deletions and insertions. Nat Biotechnol. 2020 ;38(11):1347-1355.
. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 ;176(6):1310-1324.e10.
. Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics. 2015 ;16(1):286.
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