REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

Nilah M. Ioannidis, Joseph H. Rothstein, Vikas Pejaver, +38

The American Journal of Human Genetics

Genome-wide Association StudyAllelic VariantGenotype-phenotype AssociationMedicineGenetics +12

MAP-RSeq: Mayo Analysis Pipeline for RNA sequencing

Krishna R. Kalari, Asha Nair, Jaysheel Bhavsar, +12

BMC Bioinformatics

Mutations in GANAB , Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease

Binu Porath, Vladimir G. Gainullin, Émilie Cornec-Le Gall, +22

The American Journal of Human Genetics

HepatologyDisease MechanismMedicineLiver PhysiologyInherited Metabolic Disease +7

Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease

Émilie Cornec-Le Gall, Rory J. Olson, Whitney Besse, +24

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderMedicineGeneticsRenal Pathology +7

Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy

Katherine I. Kendig, Saurabh Baheti, Matthew A. Bockol, +13

Frontiers in Genetics

GeneticsGenome Analysis ToolkitMolecular BiologyGenomicsHigh Throughput Sequencing +19

Genome-wide detection of tandem DNA repeats that are expanded in autism

Brett Trost, Worrawat Engchuan, Charlotte Nguyen, +35

Nature

Tandem DnaDna SequencingSyndromic AutismGeneticsMolecular Biology +4

New DNA Methylation Markers for Pancreatic Cancer: Discovery, Tissue Validation, and Pilot Testing in Pancreatic Juice

John B. Kisiel, Massimo Raimondo, William R. Taylor, +10

Clinical Cancer Research

Molecular profiling reveals immunogenic cues in anaplastic large cell lymphomas with DUSP22 rearrangements

Rebecca A. Luchtel, Surendra Dasari, Naoki Oishi, +27

Blood

Gene expression, methylation and neuropathology correlations at progressive supranuclear palsy risk loci

Mariet Allen, Jeremy D. Burgess, Travis Ballard, +21

Acta Neuropathologica

Neuropathology CorrelationsCorticobasal DegenerationNeurological DisorderGene ExpressionDegenerative Disease +7

TREAT: a bioinformatics tool for variant annotations and visualizations in targeted and exome sequencing data

Yan W. Asmann, Sumit Middha, Asif Hossain, +12

Bioinformatics