NORI (Non-coding RNA Identification) is a computational tool that identifies lncRNAs using next generation sequencing.
A method to evaluate neuronal maturation based on alternative splicing profiles.
Method to predict deleterious genetic effect of missense variants.
A tool for detecting copy number variants (CNVs) whole genome data based on both depth of coverage and mate pair information.
Xplorigin is a software tool for deciphering population ancestry of different regions along an individual's genome. The tool is based on a generalized hidden Markov model, trained on data from the International HapMap Project.
SIXPAC (Search for Interactions is Probably Approximately Complete) is an efficient, scalable search algorithm that finds synergy between pairs of physically unlinked SNPs (genome-wide) in large case-control datasets.
PoolDesign is a tool for designing overlapping pools for variant-carrier identification.
OPERA is a tool for power estimation and design of whole-genome resequencing projects aimed at rare variant associations.
A tool for selecting individual for sequencing by total information potential, based on GERMLINE output.
The human leukocyte antigen (HLA) genes play a major role in adaptive immune response and are used to differentiate self cells from non-self cells. HLA genes are hyper-variable with nearly every locus containing over a dozen alleles. This variation plays an important role in autoimmune diesease and organ transplantation. HLA typing by serological methods is time-consuming and expensive. This computational method can be used to infer per-locus HLA types using shared segments that are identical by descent (IBD), inferred from genotype data.
HATS is a tool for calling the amplified alleles and constructing the amplified haplotype within called tumor amplicons.
HADiT (Haplotype Amplification Distortion in Tumors) is a tool for computing and visualizing allelic distortion in tumor SNP data. It implements the amplification distortion test (ADT).
GERMLINE is an algorithm for discovering long shared segments of Identity by Descent (IBD) between pairs of (unrelated) individuals in a large population.
DASH (DASH Associates Shared Haplotypes) is a tool for detecting association to clusters of IBD segments detected by Germline. It builds upon pairwise IBD shared segments to infer clusters of IBD individuals.