Publications

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Author Title [ Year(Desc)]
Filters: Keyword is Sequence Analysis, DNA  [Clear All Filters]
2017
Cassa, C. A. et al. Estimating the selective effects of heterozygous protein-truncating variants from human exome data. Nat Genet 49, 806-810 (2017).
Lemaçon, A. et al. VEXOR: an integrative environment for prioritization of functional variants in fine-mapping analysis. Bioinformatics 33, 1389-1391 (2017).
Kernohan, K. D. et al. Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat 38, 611-614 (2017).
2019
Luo, R., Sedlazeck, F. J., Lam, T. - W. & Schatz, M. C. A multi-task convolutional deep neural network for variant calling in single molecule sequencing. Nat Commun 10, 998 (2019).