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A comprehensive SNP and indel imputability database.
A collaborative project to better understand the relationship between genotype and phenotype in humans that connects human phenotype and clinical data in various locus-specific mutation databases (LSDBs) with data on genome sequences, evolutionary history, and function in the UCSC Genome Browser. PhenCode is a collaboration among researchers at Penn State, UC Santa Cruz, and locus experts at other institutions.
Project focused on understanding the contribution of rare genetic variation to heart, lung and blood disorders through the sequencing of well-phenotyped populations.
392 phylogeny software packages and 54 free web servers describing all known software for inferring phylogenies (evolutionary trees). Submissions are welcome. Programs are listed by methods available, by computer systems on which they work, cross-referenced by method and by computer system, by ones which analyze particular kinds of data, to show the most recent listings, or to show ones most recently changed.
A software tool for visualizing phenotypic and genotypic data for related individuals linked in pedigrees.
A Macintosh OS X application that provides for creation, editing and drawing of pedigrees (also called family trees, or genograms) of human or non-human extended family lineages.
Software providing a method that estimates the probability of sharing alleles identity by descent (IBD) across the genome and can also be used for mapping disease loci using distantly related individuals.
Software that identifies short identity by descent (IBD) segments that are tagged by rare variants in large sequencing data.
Software that provides a method to infer the haplotype using haplotype reference panel and high throughput sequencing data.
A max-cut based algorithm for haplotype assembly using sequence reads from the two chromosomes of an individual.
A software tool for imputation of unobserved genotypes using a set of reference haplotype panel at a higher-density SNP set such as HapMap, and lower-density genotypes of a target individual using such as genotyping arrays.
A fully automated software tool which is available for Linux to investigate associations between a diplotype group and a phenotype in linear or logistic regression.
A method to transform Functional Impact scores taking into account the differences in basal tolerance to germline SNVs of genes that belong to different functional classes.
A website which assigns molecular functional effects of non-synonymous SNPs based on structure and sequence analysis.
A method for evaluating effects of single amino acid substitutions on protein function.
Offers the researchers an automatic pipeline to predict the disease-association of SAPs.
A toolkit for prioritizing SNVs and indels from next-generation sequencing data.
A software aimed at the annotation and prediction of pathological mutations.
It is based a SVM-based classifier.
An approach to uncover driver genes or gene modules.