Evaluation of the VISAGE Basic Tool for Appearance and Ancestry Prediction Using PowerSeq Chemistry on the MiSeq FGx System. Genes (Basel) 11, (2020).
Mapping and characterization of structural variation in 17,795 human genomes. Nature 583, 83-89 (2020).
MendelProb: probability and sample size calculations for Mendelian studies of exome and whole genome sequence data. Bioinformatics 35, 529-531 (2019).
STRetch: detecting and discovering pathogenic short tandem repeat expansions. Genome Biol 19, 121 (2018).
Ximmer: a system for improving accuracy and consistency of CNV calling from exome data. Gigascience 7, (2018).
Matchmaker Exchange. Curr Protoc Hum Genet 95, 9.31.1-9.31.15 (2017).
Identifying Allosteric Hotspots with Dynamics: Application to Inter- and Intra-species Conservation. Structure 24, 826-837 (2016).
PRIMUS: improving pedigree reconstruction using mitochondrial and Y haplotypes. Bioinformatics 32, 596-8 (2016).
Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics 16, 286 (2015).
Collapsed haplotype pattern method for linkage analysis of next-generation sequence data. Eur J Hum Genet 23, 1739-43 (2015).
GeneMatcher: a matching tool for connecting investigators with an interest in the same gene. Hum Mutat 36, 928-30 (2015).
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK. Hum Mutat 36, 1009-1014 (2015).
Generation of sequence-based data for pedigree-segregating Mendelian or Complex traits. Bioinformatics 31, 3706-8 (2015).
Genetic linkage analysis in the age of whole-genome sequencing. Nat Rev Genet 16, 275-84 (2015).
The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat 36, 915-21 (2015).
DIAMUND: direct comparison of genomes to detect mutations. Hum Mutat 35, 283-8 (2014).
Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline. BMC Bioinformatics 15, 30 (2014).
Power analysis and sample size estimation for sequence-based association studies. Bioinformatics 30, 2377-8 (2014).
PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent. Am J Hum Genet 95, 553-64 (2014).
Variant association tools for quality control and analysis of large-scale sequence and genotyping array data. Am J Hum Genet 94, 770-83 (2014).
PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features. Hum Mutat 34, 566-71 (2013).
SEQCHIP: a powerful method to integrate sequence and genotype data for the detection of rare variant associations. Bioinformatics 28, 1745-51 (2012).
SimRare: a program to generate and analyze sequence-based data for association studies of quantitative and qualitative traits. Bioinformatics 28, 2703-4 (2012).
A unified method for detecting secondary trait associations with rare variants: application to sequence data. PLoS Genet 8, e1003075 (2012).