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Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. Genet Med 20, 855-866 (2018).
Evaluation of the VISAGE Basic Tool for Appearance and Ancestry Prediction Using PowerSeq Chemistry on the MiSeq FGx System. Genes (Basel) 11, (2020).
Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children. Obesity (Silver Spring) 25, 1270-1276 (2017).
Genome-wide profiling of heritable and de novo STR variations. Nat Methods 14, 590-592 (2017).
Mapping and characterization of structural variation in 17,795 human genomes. Nature 583, 83-89 (2020).
A multi-task convolutional deep neural network for variant calling in single molecule sequencing. Nat Commun 10, 998 (2019).
SVScore: an impact prediction tool for structural variation. Bioinformatics 33, 1083-1085 (2017).