A method for calling copy number variants from exome sequencing data with an arbitrary number of reference samples.

A hidden Markov model for detecting copy number variants in exome sequence data.

DASH (DASH Associates Shared Haplotypes) is a tool for detecting association to clusters of identity by descent (IBD) segments detected by the Germline software tool.

Uses copy number and mutation data from a cohort of patients, for example from TCGA, to find modules of genes with a related mutation pattern.

An algorithm for discovering long shared segments of identity by descent (IBD) between pairs of (unrelated) individuals in a large population.

HADiT (Haplotype Amplification Distortion in Tumors) is a tool for computing and visualizing allelic distortion in tumor SNP data.

A tool for calling amplified alleles and constructing the amplified haplotype within called tumor amplicons.

A method for inferring per-locus human leukocyte antigen types using shared segments that are identical by descent (IBD), inferred from genotype data.

A tool for selecting individual for sequencing by total information potential, based on GERMLINE output.

Uses genome-wide genotype data to estimate individual disease susceptibility.

Method to predict deleterious genetic effect of missense variants.

NORI (Non-coding RNA Identification) is a computational tool that identifies lncRNAs using next generation sequencing.

A tool for power estimation and design of whole-genome resequencing projects aimed at rare variant associations.

A tool for designing overlapping pools for variant-carrier identification.

A program for calling variants in high-throughput sequencing data, particularly paired tumor-normal samples.

An efficient, scalable search algorithm that finds synergy between pairs of physically unlinked SNPs (genome-wide) in large case-control datasets.

A method to evaluate neuronal maturation based on alternative splicing profiles.

A light-weight application for reconstructing non-vertical evolutionary histories from sampled genetic sequences using persistent homology, a tool from topological data analysis.

A tool for parsing population ancestry of admixed individuals.

A tool for detecting copy number variants (CNVs) whole genome data based on both depth of coverage and mate pair information.