Tools

MAMBA

A computer program for the analysis and interpretation of genomics data with an emphasis on understanding the genetic basis of biomedical traits.

Syzygy

Syzygy is a targeted sequencing post processing analysis tool for: i) SNP and indel detection; ii) allele frequency estimation; iii) group-wise marker test association; iv) experimental qc summary; v) power to detect variants. This tool has been used for detection of cancer associated mosaic mutations in blood.

Collaborations

PLINK/SEQ

An open-source C/C++ library for working with human genetic variation data.

Browsers

IBD Exome Browser

This browser presents IBD case-control association results from a meta-analysis of three population cohorts, each of which contains samples and/or data contributed from many collaborative partners. Genetic variant frequency data in this browser are reported from 2641 IBD (1855 CD, 700 UC) and 3044 non-IBD samples of Ashkenazi Jewish (AJ) descent from a collaborative network of exome sequencing studies.

Global Biobank Engine (active development)

This engine presents case-control association results from the UK Biobank hospital in-patient health-related outcomes summary information data (Data-Field 41202); computational grouping of phenotypes with cancer (Category 100092) registry, death registry data (Category 100093), algorithmically-defined outcomes (Category 42), and verbal questionnaire data (Category 100071); and manually curated grouping of phenotypes. We also include the MRP inference, a Bayesian framework to perform aggregate analysis of variants, genes, and multiple phenotypes.