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https://orwh.od.nih.gov/

The mission of the Office of Research on Women's Health (ORWH) is to stimulate and encourage meritorious research on women's health, including the role of sex and gender in health and disease. The priorities signify approaches and areas for which there is a need to stimulate and encourage research on women's health, or sex/gender factors, and the advancement of women in biomedical research careers. These research priorities are not an exclusive list of research areas important to women's health; therefore other innovative or significant research areas should also be considered. The following four overarching themes are important for addressing research on women's health: Lifespan, Sex/Gender Determinants, Health Disparities/Differences and Diversity, ad Interdisciplinary Research. Special Areas of Emphasis - Prevention/Treatment: from basic biological factors, including identifying and validating biomarkers, to risk and its applications to disease prevention, early detection, and treatment. - Sex and Genetics/Pharmacogenomics: genetic, molecular, and cellular basis for action of pharmacologic agents known to have different effects in females than in males. Research on effects of sex as a modifier of gene function and response is under-investigated. Sponsors: This research is funded by the NAtional Institutes of Health.

Proper citation: Office of Research on Womens Health: Reseach (RRID:SCR_001822) Copy   

•   Source: SciCrunch Registry

http://ccr.coriell.org/Sections/Collections/CDC/?SsId=16

A repository which houses DNA samples prepared from reference cell lines and are available for use in molecular genetic testing. The CF samples contain mutations associated with unique populations, combinations of IVS8 poly-thymidine tract variants, and mutations not previously available. Three DNA samples with homozygous MTHFR-related mutations are available. Hemochromatosis-associated samples include a compound HFE heterozygote and other combinations of HFE alleles. DNA samples with triplet repeats at the intermediate-range are available for HD and Fragile X syndrome. Mutations were confirmed in all cell lines from which the DNA has been prepared by reference testing and multi-laboratory pilot testing. Control DNA samples negative for all mutations are also available. Laboratories are encouraged to contact Coriell Cell Repositories to inquire about obtaining samples or donating samples as possible candidates for transformation.

Proper citation: CDC Cell and DNA Repository (RRID:SCR_004680) Copy   

•   Source: SciCrunch Registry

http://wpicr.wpic.pitt.edu/WPICCompGen/blocks.htm

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on July 31,2025. Software application aiming at identifying haplotype blocks. The likelihood of the data is calculated minus the model complexity. The resulting blocks have very low diversity and the linkage disequilibrium with SNP's outside the blocks is low. (entry from Genetic Analysis Software)

Proper citation: ENTROPY BLOCKER (RRID:SCR_000123) Copy   

•   Source: SciCrunch Registry

http://www.homozygositymapper.org/

A web-based approach of homozygosity mapping that can handle tens of thousands markers. User can upload their own SNP genotype files to the database. Intuitive graphic interface is provided to view the homozygous stretches, with the ability of zooming into single chromosomes or user-defined chromosome regions. The underlying genotypes in all samples are displayed. The software is also integrated with our candidate gene search engine, GeneDistiller, so that users can interactively determine the most promising gene. (entry from Genetic Analysis Software)

Proper citation: HOMOZYGOSITYMAPPER (RRID:SCR_001714) Copy   

•   Source: SciCrunch Registry

http://eyegene.ophthy.med.umich.edu/madeline/

Software tool designed for preparing, visualizing, and exploring human pedigree data used in genetic linkage studies. It converts pedigree and marker data into formats required by popular linkage analysis packages, provides powerful ways to query pedigree data sets, and produces Postscript pedigree drawings that are useful for rapid data review.

Proper citation: MADELINE (RRID:SCR_001979) Copy   

•   Source: SciCrunch Registry

http://www.depressiontools.org/

Online instrument that estimates whether a biomarker predicting outcome of depression treatment is likely to be clinically significant.

Proper citation: DepressionTools.org Clinical Significance Calculator (RRID:SCR_003873) Copy   

•   Source: SciCrunch Registry

http://analysis2.bio-x.cn/myAnalysis.php

A powerful web-based platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci.

Proper citation: SHEsis: Analysis Tools For Random Samples (RRID:SCR_002958) Copy   

•   Source: SciCrunch Registry

https://www.facebase.org/node/252

THIS RESOURCE IS NO LONGER IN SERVICE,documented on January,18, 2022. FaceBase Biorepository is now collecting biological samples from people with cleft lip/palate and their family members. Information for Prospective Cases: Clefts of the lip and/or palate can be caused by a wide range of genetic, environmental and other factors. The FaceBase Biorepository will serve as a common source of both biological samples and information that can be made available to investigators trying to determine the underlying cause of these common birth defects. Genetic studies, in particular, will benefit from both family history information and having samples from affected individuals as well as their family members. DNA is the information containing molecules found in all the cells of our body and can be easily obtained from material such as blood or saliva samples. As part of the FaceBase Biorepository, we are requesting families to submit biological samples from specific family members as well as information from other family members that might be affected with either the same condition or a similar condition. The medical and family history information that is collected includes other relevant information such as exposure to possible environmental causes during pregnancy. The biorepository is managed by Nichole Nidey, a research study coordinator, and Jeff Murray, a pediatric clinical geneticist and researcher. They are available to speak with family members regarding questions they may have, including providing information about the biorepository and making arrangements for the collection of samples for those who wish to participate. All participation is voluntary. Your name or other personally identifiable information (name, address, etc) will be removed before information is placed in the biorepository. Summary data to show how the database itself has been used overall as well as updates on whether specific findings might have been made using this database will be available on the FaceBase website at www.facebase.org. A newsletter containing this information will also be given to families and referring clinicians so that they may discuss the specifics with the families if there appears to be information that might be relevant in a particular case. Families will also need to sign a consent form that has been approved by the Institutional Review Board at the University of Iowa. Also, any submitted samples or data can also be removed from the database at any time should the family no longer wish to participate. Investigators interested in requesting DNA samples or for more information, please contact cleftresearch (at) uiowa.edu, Nichole Nidey, nichole-nidey (at) uiowa.edu or (319) 353-4365, or Jeff Murray, jeff-murray (at) uiowa.edu.

Proper citation: FaceBase Biorepository (RRID:SCR_006001) Copy   

•   Source: SciCrunch Registry

http://cbl-gorilla.cs.technion.ac.il/

A tool for identifying and visualizing enriched GO terms in ranked lists of genes. It can be run in one of two modes: * Searching for enriched GO terms that appear densely at the top of a ranked list of genes or * Searching for enriched GO terms in a target list of genes compared to a background list of genes.

Proper citation: GOrilla: Gene Ontology Enrichment Analysis and Visualization Tool (RRID:SCR_006848) Copy   

•   Source: SciCrunch Registry

http://www.homepages.ed.ac.uk/pmckeigu/pooling/poolscore.htm

Software program for analysis of case-control genetic association studies using allele frequency measurements on DNA pools (entry from Genetic Analysis Software)

Proper citation: POOLSCORE (RRID:SCR_007514) Copy   

•   Source: SciCrunch Registry

http://chgr.mc.vanderbilt.edu/page/gist

Software package to test if a marker can account in part for the linkage signal in its region. There are two versions of the software: Windows and Linux/Unix.

Proper citation: Genotype-IBD Sharing Test (RRID:SCR_006257) Copy   

•   Source: SciCrunch Registry

http://www003.upp.so-net.ne.jp/pub/publications.html#sl

Software application for inkage disequilibrium grouping of single nucleotide polymorphisms (SNPs) reflecting haplotype phylogeny for efficient selection of tag SNPs. (entry from Genetic Analysis Software)

Proper citation: LDGROUP (RRID:SCR_006282) Copy   

•   Source: SciCrunch Registry

http://wpicr.wpic.pitt.edu/WPICCompGen/genomic_control/genomic_control.htm

Software application where GC implements the genomic control models. GCF implements the basic Genomic Control approach, but adjusts the p-values for uncertainty in the estimated effect of substructure. This approach is preferable if a large number of tests will be evaluated because it provides a more accurrate assessment of the significance level for small p-values. (entry from Genetic Analysis Software)

Proper citation: GC/GCF (RRID:SCR_009075) Copy   

•   Source: SciCrunch Registry

https://beast.community/tempest

Software tool for investigating temporal signal and clocklikeness of molecular phylogenies. Used for visualization and analysis of temporally sampled sequence data to assess whether there is sufficient temporal signal in data to proceed with phylogenetic molecular clock analysis, and to identify sequences whose genetic divergence and sampling date are incongruent. Not available for downloading as of August 8, 2019.

Proper citation: TempEst (RRID:SCR_017304) Copy   

•   Source: SciCrunch Registry

https://github.com/BDI-pathogens/phyloscanner

Software tool for analysing pathogen genetic diversity and relationships between and within hosts at once, in windows along genome. Inferring transmission from within and between host pathogen genetic diversity.

Proper citation: phyloscanner (RRID:SCR_017400) Copy   

•   Source: SciCrunch Registry

http://geneatlas.roslin.ed.ac.uk

Database of associations between traits and variants using UK Biobank cohort. Searchable atlas of genetic associations. Assists researchers to query UK Biobank. Provides unbiased view of phenotype and genotype associations across of traits.

Proper citation: GeneATLAS (RRID:SCR_017577) Copy   

•   Source: SciCrunch Registry

https://www.ebi.ac.uk/eva/

Open access database of all types of genetic variation data from all species. Users can download data from any study, or submit their own data to archive. You can also query all variants by study, gene, chromosomal location or dbSNP identifier using our Variant Browser.

Proper citation: European Variation Archive (EVA) (RRID:SCR_017425) Copy   

•   Source: SciCrunch Registry

https://github.com/ctlab/GADMA

Software tool to implement methods for automatic inferring joint demographic history of multiple populations from genetic data. Genetic algorithm for inferring demographic history of multiple populations from allele frequency spectrum data.

Proper citation: GADMA (RRID:SCR_017680) Copy   

•   Source: SciCrunch Registry

http://www.sanger.ac.uk/science/tools/olorin

An interactive filtering tool for next generation sequencing data coming from the study of large complex disease pedigrees. It integrates gene flow output from Merlin and next generation sequencing data. Users can interactively filter and prioritize variants based on haplotype sharing across different sets of selected individuals and allele frequency in reference datasets. (entry from Genetic Analysis Software)

Proper citation: OLORIN (RRID:SCR_002015) Copy   

•   Source: SciCrunch Registry

https://sites.pitt.edu/~weeks/docs/SimIBD.html

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 23,2022. Software application (entry from Genetic Analysis Software)

Proper citation: SIMIBD (RRID:SCR_002094) Copy   

•   Source: SciCrunch Registry