Marc Singleton

A probabilistic disease-gene finder for personal genomes

Mark Yandell, Chad Huff, Hao Hu et al. · Genome Research · 2011 · 208 citations · Full text

Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families

Marc Singleton, Stephen L. Guthery, Karl V. Voelkerding et al. · The American Journal of Human Genetics · 2014 · 190 citations · Full text

Validation of DNA-Based Prognostic Testing to Predict Spinal Curve Progression in Adolescent Idiopathic Scoliosis

Kenneth Ward, James W. Ogilvie, Marc Singleton et al. · Spine · 2010 · 109 citations

The Development of Next-Generation Sequencing Assays for the Mitochondrial Genome and 108 Nuclear Genes Associated with Mitochondrial Disorders

Shale Dames, Lan-Szu Chou, Xiao Ye et al. · Journal of Molecular Diagnostics · 2013 · 53 citations · Full text

Mitochondrial Myopathy, Next-generation Sequencing Assays, Dna +11

Global analysis of disease-related DNA sequence variation in 10 healthy individuals: Implications for whole genome-based clinical diagnostics

Barry Moore, Hao Hu, Marc Singleton et al. · Genetics in Medicine · 2011 · 37 citations · Full text

Genome-wide Association Study, Healthy Individuals, Medicine +10