Publications
Export 15 results:
Author [ Title] Year Filters: Keyword is Sequence Analysis, DNA [Clear All Filters]
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 376, 21-31 (2017).
Rapid, Paralog-Sensitive CNV Analysis of 2457 Human Genomes Using QuicK-mer2. Genes (Basel) 11, (2020).
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).
Evaluation of the VISAGE Basic Tool for Appearance and Ancestry Prediction Using PowerSeq Chemistry on the MiSeq FGx System. Genes (Basel) 11, (2020).
Efficient phasing and imputation of low-coverage sequencing data using large reference panels. Nat Genet 53, 120-126 (2021).
Discovery and population genomics of structural variation in a songbird genus. Nat Commun 11, 3403 (2020).
Copy number variants and fixed duplications among 198 rhesus macaques (Macaca mulatta). PLoS Genet 16, e1008742 (2020).
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. Genet Med 20, 855-866 (2018).
Accurate detection of complex structural variations using single-molecule sequencing. Nat Methods 15, 461-468 (2018).