Publications
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Filters: Keyword is Genome, Human and Author is Schatz, Michael C [Clear All Filters]
A complete reference genome improves analysis of human genetic variation. Science. 2022 ;376(6588):eabl3533.
. The complete sequence of a human genome. Science. 2022 ;376(6588):44-53.
. Optimized sample selection for cost-efficient long-read population sequencing. Genome Res. 2021 ;31(5):910-918.
. A diploid assembly-based benchmark for variants in the major histocompatibility complex. Nat Commun. 2020 ;11(1):4794.
. Parliament2: Accurate structural variant calling at scale. Gigascience. 2020 ;9(12).
. Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome. Nat Biotechnol. 2019 ;37(10):1155-1162.
. A multi-task convolutional deep neural network for variant calling in single molecule sequencing. Nat Commun. 2019 ;10(1):998.
. Paragraph: a graph-based structural variant genotyper for short-read sequence data. Genome Biol. 2019 ;20(1):291.
. Accurate detection of complex structural variations using single-molecule sequencing. Nat Methods. 2018 ;15(6):461-468.
. Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line. Genome Res. 2018 ;28(8):1126-1135.
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