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Vcfanno: fast, flexible annotation of genetic variants.

June 1, 2016

Targeted Deep Sequencing in Multiple-Affected Sibships of European Ancestry Identifies Rare Deleterious Variants in PTPN22 that Confer Risk for Type 1 Diabetes

March 2, 2016

Genetic variation may influence response to 17-alpha hydroxyprogesterone caproate (17P) for recurrent preterm birth (PTB) prevention

January 4, 2016

Gene set enrichment investigation of maternal exome variation in spontaneous preterm birth (SPTB)

January 1, 2016

Efficient genotype compression and analysis of large genetic-variation data sets.

November 9, 2015

A global reference for human genetic variation

October 1, 2015

An integrated map of structural variation in 2,504 human genomes

October 1, 2015

Sequence Analysis and Characterization of Active Human Alu subfamilies Based on the 1000 Genomes Pilot Project.

August 29, 2015

Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.

August 18, 2015

SpeedSeq: ultra-fast personal genome analysis and interpretation

August 10, 2015

Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.

July 1, 2015

Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR).

June 29, 2015
Fine Mapping Of Type 1 Diabetes

Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.

March 9, 2015

The distribution and mutagenesis of short coding INDELs from 1,128 whole exomes

February 28, 2015

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

February 5, 2015
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