NORI
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NORI (Non-coding RNA Identification) is a computational tool that identifies lncRNAs using next generation sequencing.
Splicescope
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A method to evaluate neuronal maturation based on alternative splicing profiles.
MVP
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Method to predict deleterious genetic effect of missense variants.
CANOES
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TARGet
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SAVI
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GAMToC
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Zinfandel
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A tool for detecting copy number variants (CNVs) whole genome data based on both depth of coverage and mate pair information.
Xplorigin
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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
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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
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PoolDesign is a tool for designing overlapping pools for variant-carrier identification.
OPERA
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OPERA is a tool for power estimation and design of whole-genome resequencing projects aimed at rare variant associations.
MutaGeneSys
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MutaGeneSys uses genome-wide genotype data to estimate individual disease susceptibility. It integrates three data sources: the International HapMap project (hapmap.org), whole-genome marker correlation data (description), and the Online Mendelian Inheritance in Man database (OMIM).
INFOSTIP
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A tool for selecting individual for sequencing by total information potential, based on GERMLINE output.
HLA-IBD
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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
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HATS is a tool for calling the amplified alleles and constructing the amplified haplotype within called tumor amplicons.
HADiT
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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
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GERMLINE is an algorithm for discovering long shared segments of Identity by Descent (IBD) between pairs of (unrelated) individuals in a large population.
DASH
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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.