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Accurate detection of complex structural variations using single-molecule sequencing. Nat Methods 15, 461-468 (2018).
A multi-task convolutional deep neural network for variant calling in single molecule sequencing. Nat Commun 10, 998 (2019).
Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits. Am J Hum Genet 100, 205-215 (2017).
SVScore: an impact prediction tool for structural variation. Bioinformatics 33, 1083-1085 (2017).
Towards population-scale long-read sequencing. Nat Rev Genet 22, 572-587 (2021).