Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families. April 3, 2014
Pharmacogenomics of 17-alpha hydroxyprogesterone caproate for recurrent preterm birth prevention. April 2, 2014
MOSAIK: a hash-based algorithm for accurate next-generation sequencing short-read mapping. March 5, 2014
Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon. February 17, 2014
Combined proteomic and transcriptomic interrogation of the venom gland of Conus geographus uncovers novel components and functional compartmentalization. January 29, 2014
Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations. January 25, 2014
Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia December 5, 2013
Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections August 8, 2013
Genetic basis for phenotypic differences between different Toxoplasma gondii type I strains. July 10, 2013
VAAST 2.0: improved variant classification and disease-gene identification using a conservation-controlled amino acid substitution matrix. July 8, 2013
Fine-scale patterns of population stratification confound rare variant association tests July 4, 2013
