Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families. Mary Anne Karren / April 3, 2014
Pharmacogenomics of 17-alpha hydroxyprogesterone caproate for recurrent preterm birth prevention. Mary Anne Karren / April 2, 2014
MOSAIK: a hash-based algorithm for accurate next-generation sequencing short-read mapping. Mary Anne Karren / March 5, 2014
Epistatic and combinatorial effects of pigmentary gene mutations in the domestic pigeon. Mary Anne Karren / February 17, 2014
Combined proteomic and transcriptomic interrogation of the venom gland of Conus geographus uncovers novel components and functional compartmentalization. Mary Anne Karren / January 29, 2014
Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations. Mary Anne Karren / January 25, 2014
Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia Mary Anne Karren / December 5, 2013
Integrative annotation of variants from 1092 humans: application to cancer genomics. Mary Anne Karren / October 4, 2013
Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections Mary Anne Karren / August 8, 2013
GEMINI: integrative exploration of genetic variation and genome annotations. Mary Anne Karren / July 18, 2013
Genetic basis for phenotypic differences between different Toxoplasma gondii type I strains. Mary Anne Karren / July 10, 2013
Variant discovery in targeted resequencing using whole genome amplified DNA. Mary Anne Karren / July 10, 2013
VAAST 2.0: improved variant classification and disease-gene identification using a conservation-controlled amino acid substitution matrix. Mary Anne Karren / July 8, 2013
Fine-scale patterns of population stratification confound rare variant association tests Mary Anne Karren / July 4, 2013
Genomic diversity and evolution of the head crest in the rock pigeon Mary Anne Karren / March 1, 2013