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http://genome.sph.umich.edu/wiki/Polymutt
Software program that implemented a likelihood-based framework for calling single nucleotide variants and detecting de novo point mutation events in families for next-generation sequencing data. The program takes as input genotype likelihood format (GLF) files which can be generated following the Creation of GLF files instruction and outputs the result in the (VCF) format. The variant calling and de novo mutation detection are modelled jointly within families and can handle both nuclear and extended pedigrees without consanguinity loops. The input is a set of GLF files for each of family members and the relationships are specified through the .ped file. (entry from Genetic Analysis Software)
Proper citation: POLYMUTT (RRID:SCR_002051) Copy
https://hsph.harvard.edu/research/price-lab/software/
THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 23,2022. Software application (entry from Genetic Analysis Software)
Proper citation: EIGENSOFT/EIGENSTRAT (RRID:SCR_001357) Copy
https://www.broadinstitute.org/birdsuite/birdsuite
Open-source set of tools to detect and report SNP genotypes, common Copy-Number Polymorphisms (CNPs), and novel, rare, or de novo CNVs in samples processed with the Affymetrix platform. While most of the components of the suite can be run individually (for instance, to only do SNP genotyping), the Birdsuite is especially intended for integrated analysis of SNPs and CNVs.
Proper citation: BIRDSUITE (RRID:SCR_001794) Copy
http://www.sanger.ac.uk/science/tools/dindel
THIS RESOURCE IS NO LONGER IN SERVICE. Documented on March 7,2024. Software program for calling small indels from short-read sequence data ("next generation sequence data"). It is currently designed to handle only Illumina data. Dindel takes BAM files with mapped Illumina read data and enables researchers to detect small indels and produce a VCF file of all the variant calls. It has been written in C++ and can be used on Linux-based and Mac computers (it has not been tested on Windows operating systems).
Proper citation: DINDEL (RRID:SCR_001827) Copy
http://animalgene.umn.edu/pedigraph/
A pedigree visualization program specifically designed to draw large, complex pedigrees. (entry from Genetic Analysis Software) Options include: * Full pedigree * Summarization * Extraction of individual pedigrees * Inbreeding calculation * Coancestry coefficient calculation * Color control * Drawing size * Page size and margins * Drawing styles
Proper citation: PEDIGRAPH (RRID:SCR_001938) Copy
http://www.nbrc.nite.go.jp/e/index.html
Collection of microbial resources and perform taxonomic characterization of individual microorganisms such as bacteria including actinomycetes and archaea, yeasts, fungi, algaes, bacteriophages and DNA resources for academic research and industrial applications. NBRC is a member of WFCC, OECD Global BRC Network, ACM and JSCC. They are certified by quality management system ISO 9001. To provide attractive biological resources with useful information attached, they actively collect potentially useful biological resources (microorganisms and cloned genes) and distributes them to promote basic research as well as industrial applications. At the Biological Resource Center, they explore, isolate and identify microorganisms from various natural environments and at the same time accept scientifically and industrially useful microorganisms from researchers in academic and industrial sectors. The microbial DNA library constructed at the Biotechnology Development Center is also part of their collection. To improve and expand the collection, new methodologies for the isolation, identification and preservation of microorganisms and DNA will be investigated and developed so as to provide biological resources of higher quality. Their resources serve, for example, as the standard for determining antimicrobial activity, in aseptic tests as well as for the production of pharmaceutical substances and will be constantly reinforced for wider distribution to researchers in academia and industries. Please refer to the catalog shown at the NBRC website for details.
Proper citation: NBRC (RRID:SCR_002660) Copy
http://ftp://morgan.med.utah.edu/pub/Mim
Software application using multipoint IBD method for partitioning genetic variance of quantitative traits to specific chromosome regions using data on nuclear families. (entry from Genetic Analysis Software)
Proper citation: Multipoint Identical-by-descent Method (RRID:SCR_004676) Copy
http://genome.sph.umich.edu/wiki/PedScript
Software tool that allows scripting of simple modifications to pedigree files. (entry from Genetic Analysis Software)
Proper citation: PEDSCRIPT (RRID:SCR_004571) Copy
http://www.chg.duke.edu/software/pedplot.html
Pedigree Plotting Program for the Pedfile Format (entry from Genetic Analysis Software)
Proper citation: PEDPLOT (RRID:SCR_003843) Copy
http://www.homepages.ed.ac.uk/pmckeigu/hapmixmap/hapmixmap_manual.html
Software application for modelling extended haplotypes in genetic association studies, similar to the FASTPHASE program. (entry from Genetic Analysis Software)
Proper citation: HAPMIXMAP (RRID:SCR_006066) Copy
http://www2.ujf-grenoble.fr/leca/membres/manel.html
Software application for parentage inference using molecular data from diploid codominant markers (entry from Genetic Analysis Software)
Proper citation: PARENTE (RRID:SCR_004717) Copy
http://www.mds.qmw.ac.uk/statgen/dcurtis/software.html
THIS RESOURCE IS NO LONGER IN SERVICE. Documented on January 11, 2023. A pedigree drawing program using LINKAGE data files (entry from Genetic Analysis Software)
Proper citation: PEDRAW/WPEDRAW (RRID:SCR_004797) Copy
http://biostatistics.mdanderson.org/SoftwareDownload/
Software application for power and sample-size calculations for the TDT and ASP tests under a wide variety of ascertainment schemes. Uses the flexible genetic model of McGinnis. Most calculations are exact rather than asymptotic. (entry from Genetic Analysis Software)
Proper citation: TDTASP (RRID:SCR_004943) Copy
http://genomics.med.upenn.edu/spielman/TDT.htm
Software program that provides separate results for TDT, S-TDT, and the combined (overall) test, as appropriate. (entry from Genetic Analysis Software)
Proper citation: TDT/S-TDT (RRID:SCR_005548) Copy
http://cgi.uc.edu/cgi-bin/kzhang/haploBlockFinder.cgi
Software package for haplotype block identification, visualization and htSNP selection. It can also compare the haplotype block structure with local LD pattern. The program can be either run as a web service, or standalone executables on local machine. (entry from Genetic Analysis Software)
Proper citation: HAPLOBLOCKFINDER (RRID:SCR_005844) Copy
http://courses.jax.org/2012/addiction.html
THIS RESOURCE IS NO LONGER IN SERVICE, documented August 23, 2016. This course emphasizes genetic applications and approaches to drug addiction research through methodological instruction based on literature, data sets and informatics resources drawn from studies of addiction related phenotypes. The course includes plenary sessions on major progress in addiction genetics, and discussion sessions in which students present their work for discussion on applications of genetic methods. Students will leave the course able to design and interpret genetic and genomic studies of addiction as they relate to their specific research question, and will be able to make use of current bioinformatics resources to identify research resources and make use of public data sources in their own research.
Proper citation: Short Course on the Genetics of Addiction (RRID:SCR_005560) Copy
http://www.stats.ox.ac.uk/%7Emarchini/software.html
An R package that specifically focuses on statistical and population genetics methods. The motivation behind the package is to produce an easy to use interface to many of the commonly used methods and models used in statistical and population genetics and an alternative interface for some of the methodology produced by our group. (entry from Genetic Analysis Software)
Proper citation: POPGEN (RRID:SCR_007315) Copy
Collects and stores genetic (DNA) samples along with associated healthcare information from patients of Northwestern-affiliated hospitals and clinics. This resource is available to scientists to conduct groundbreaking genetic research. The information and blood samples provided will be used by researchers to examine the role genes play in the development and treatment of common diseases. The NUgene Project seeks to increase the understanding of genetic mechanisms underlying common diseases, assist in the development of DNA-based technology for diagnosis and treatment of disease, and aid physicians and other healthcare providers in the application of genetics to the practice of medicine. NUgene participants are recruited throughout the Northwestern-affiliated healthcare community in order to create an ethnically and medically diverse population for research. Participants must be 18 years of age or older and receive their medical care from a Northwestern-affiliated provider, regardless of health status. Consenting individuals complete all aspects of enrollment in a single meeting with a research coordinator. The enrollment process includes the donation of a single sample of blood and the completion of a self-administered questionnaire. Participants also sign a consent form during this encounter. The NUgene Project is an interdisciplinary project that relies on the expertise of individuals working in a variety of fields, including science, medicine, clinical research, statistics, epidemiology, and computational biology. NUgene''s multidisciplinary approach has spurred collaborations within Northwestern-affiliated institutions and with other outside institutions. This collaboration of ideas is the future of genetics and genomic research., THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 16,2025.
Proper citation: NUgene Project (RRID:SCR_007426) Copy
http://www.stats.ox.ac.uk/~mcvean/LDhat/
Software package for the analysis of recombination rates from population genetic data (entry from Genetic Analysis Software)
Proper citation: LDHAT (RRID:SCR_006298) Copy
https://varscan.sourceforge.net/
Platform-independent, technology-independent software tool for identifying SNPs and indels in massively parallel sequencing of individual and pooled samples. Given data for a single sample, VarScan identifies and filters germline variants based on read counts, base quality, and allele frequency. Given data for a tumor-normal pair, VarScan also determines the somatic status of each variant (Germline, Somatic, or LOH) by comparing read counts between samples. (entry from Genetic Analysis Software).
Proper citation: VarScan (RRID:SCR_006849) Copy
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