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Mapping and characterization of structural variation in 17,795 human genomes. Nature 583, 83-89 (2020).
SVScore: an impact prediction tool for structural variation. Bioinformatics 33, 1083-1085 (2017).
A multi-task convolutional deep neural network for variant calling in single molecule sequencing. Nat Commun 10, 998 (2019).
Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children. Obesity (Silver Spring) 25, 1270-1276 (2017).
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. Genet Med 20, 855-866 (2018).
Genome-wide profiling of heritable and de novo STR variations. Nat Methods 14, 590-592 (2017).