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https://code.google.com/p/breseq/

A computational pipeline for finding mutations relative to a reference sequence in short-read DNA re-sequencing data intended for haploid microbial genomes.

Proper citation: breseq (RRID:SCR_010810) Copy   

•   Source: SciCrunch Registry

http://mutpred.mutdb.org/

Web application tool developed to classify an amino acid substitution as disease-associated or neutral in human.

Proper citation: MutPred (RRID:SCR_010778) Copy   

•   Source: SciCrunch Registry

http://www.broadinstitute.org/cancer/cga/mutsig

Software that analyzes lists of mutations discovered in DNA sequencing, to identify genes that were mutated more often than expected by chance given background mutation processes.

Proper citation: MutSig (RRID:SCR_010779) Copy   

•   Source: SciCrunch Registry

http://svdetect.sourceforge.net/Site/Home.html

Software application for the isolation and the type prediction of intra- and inter-chromosomal rearrangements from paired-end/mate-pair sequencing data provided by the high-throughput sequencing technologies. This tool aims to identify structural variations with both clustering and sliding-window strategies, and helping in their visualization at the genome scale. It is compatible with SOLiD and Illumina (>=1.3) reads.

Proper citation: SVDetect (RRID:SCR_010812) Copy   

•   Source: SciCrunch Registry

http://snpanalyzer.uthsc.edu/

A tool to predict whether a nonsynonymous single nucleotide polymorphism (nsSNP) has a phenotypic effect.

Proper citation: nsSNPAnalyzer (RRID:SCR_010780) Copy   

•   Source: SciCrunch Registry

http://snps.biofold.org/phd-snp/phd-snp.html

It is based a SVM-based classifier.

Proper citation: PhD-SNP (RRID:SCR_010782) Copy   

•   Source: SciCrunch Registry

http://mmb.pcb.ub.es/PMut/

A software aimed at the annotation and prediction of pathological mutations.

Proper citation: PMut (RRID:SCR_010783) Copy   

•   Source: SciCrunch Registry

http://www.biobanks.se/medicalbiobank.htm

A biobank created from a cross-sectional population of a town in Sweden. The Medical Biobank is mainly based on three cohorts: The V��sterbotten intervention cohort, the MONICA-cohort, and the Mammary screening cohort. These sub-cohorts together are named Northern Sweden Health and Disease Study Cohort (North Health). These sub-cohorts together is named Northern Sweden Health and Disease Study Cohort (North Health). Originally, the V��sterbotten Intervention program (VIP) is a long-term project intended for health promotion of the population of V��sterbotten. All individuals 40, 50 and 60 years of age in the population of the county are invited for screening (approx. 254.000 inhabitants). They are asked to complete a questionnaire concerning various lifestyle factors including diet. They are also asked to donate a separate blood sample to the Medical Biobank for freeze storage for later research purposes. The project started in 1985 and the cohort covered in December 2002, 74,000 individuals, of whom 67,000 had donated blood samples. The material is supplemented with population based samples from a local mammary screening (44,000 sampling occasions, 25,700 unique individuals) and from the Northern Sweden MONICA Project (11,500 sampling occasions, 7,500 unique individuals). The total cohort contains at the moment 85.000 unique individuals with 130.000 sampling occasions. The VIP and MONICA cohorts are population based and the mammary screening cohort are nearly population based. Follow-up: * For the VIP-cohort a second sample (and questionnaire) is collected with a 10-year interval of the individuals within the cohort. * Repeated sampling was performed in the MONICA project in 1999 on individuals participating in 1986, 1990, and 1994. * From 1997 repeated screening has started within the mammary screening program with sampling every second year, in the age group 50-69 years within the county. Biobank content: * Life-Style Questionnaire: Every attending subject is asked to answer a questionnaire, which in the VIP and MONICA-projects includes questions about education, occupation/working conditions, daily habits including smoking, diet, etc and in the mammary screening cohort on reproductive conditions. The dietary questionnaire has been validated twice. The data from the questionnaires, as well as from results from the biobank, are kept in a database for future research purposes. The questionnaires in the VIP and the MONICA project are optically read. * Measurements: Blood Pressure, Anthropometry, Glucose Tolerance Test, Blood Lipids * Blood Samples: The attendants are asked for their willingness to donate a sample of 20-ml whole blood for future analyses. The sample is taken after 4 hours of fasting or in the morning after an over night fasting (most samples) in the VIP and MONICA cohorts. The 20-ml sample is divided into 10 subsamples consisting of 6 plasma, 2 leukocyte (buffy coat) and 2 erythrocyte samples. All material is frozen at -80 degrees C. The organization of the bank is elaborated with specially trained staff and an organization of transport-, storage- and security facilities. For DNA handling a specialized laboratory has been built up. * End-points: Mortality, Cancer events, Cardiovascular events, Other morbidity, Other registry-based follow-up * Registries: At regular intervals the cohort is scanned for incident myocardial infarctions (MI) and stroke utilizing the Northern Sweden MONICA registry and for cancer using the regional cancer registry. In the future the same procedure will be applied also on other registries e.g. diabetes, osteoporosis, dementia.

Proper citation: Medical Biobank (RRID:SCR_010748) Copy   

•   Source: SciCrunch Registry

http://www.integralife.com/

Commercial tissue bank for human tissues.

Proper citation: Integra Life Sciences (RRID:SCR_010741) Copy   

•   Source: SciCrunch Registry

https://www.broadinstitute.org/scientific-community/science/programs/genome-sequencing-and-analysis/computational-rd/computational-

Software tool as whole genome shotgun assembler that can generate high quality genome assemblies using short reads (~100bp) such as those produced by the new generation of sequencers.

Proper citation: ALLPATHS-LG (RRID:SCR_010742) Copy   

•   Source: SciCrunch Registry

http://sourceforge.net/apps/mediawiki/wgs-assembler/index.php?title=Main_Page

A de novo whole-genome shotgun (WGS) DNA sequence assembler.

Proper citation: Celera assembler (RRID:SCR_010750) Copy   

•   Source: SciCrunch Registry

http://soap.genomics.org.cn/soapdenovo.html

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on February 24,2023. Software tool for de novo assembly of human genomes with massively parallel short read sequencing.Short-read assembly method that can build de novo draft assembly for human sized genomes.Software package for assembling short oligonucleotide into contigs and scaffolds., THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 16,2025.

Proper citation: SOAPdenovo (RRID:SCR_010752) Copy   

•   Source: SciCrunch Registry

http://bioinformatics.nyu.edu/wordpress/projects/sutta/

A new De Novo DNA sequence assembler based on global search-methods in order to contain the complexity of the assembly problem.

Proper citation: SUTTA (RRID:SCR_010754) Copy   

•   Source: SciCrunch Registry

http://www.molecularevolution.org/software/genomics/velvet

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on February 28,2023. Software package as de novo genomic assembler for short read sequencing technologies using de Bruijn graphs. Takes in short read sequences, removes errors, then produces high quality unique contigs, retrieves repeated areas between contigs. Can leverage very short reads in combination with read pairs to produce useful assemblies. Operating system Unix/Linux., THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 16,2025.

Proper citation: Velvet (RRID:SCR_010755) Copy   

•   Source: SciCrunch Registry

https://www.hgsc.bcm.edu/content/atlas2

A next-generation sequencing suite of variant analysis tools specializing in the separation of true SNPs and insertions and deletions (indels) from sequencing and mapping errors in WECS data.

Proper citation: Atlas2 (RRID:SCR_010756) Copy   

•   Source: SciCrunch Registry

http://odin.mdacc.tmc.edu/~wwang7/FamSeqIndex.html

A computational tool for calculating probability of variants in family-based sequencing data.

Proper citation: FamSeq (RRID:SCR_010760) Copy   

•   Source: SciCrunch Registry

http://www.moleculardevices.com/Products/Software/GenePix-Pro.html

Industry standard microarray image analysis software because of its unique combination of imaging and analysis tools, visualizations, automation capabilities, performance and intuitive workflows.

Proper citation: GenePix Pro (RRID:SCR_010969) Copy   

•   Source: SciCrunch Registry

http://berry.engin.umich.edu/oligoarray2_1/

A free software that computes gene specific oligonucleotides for genome-scale oligonucleotide microarray construction.

Proper citation: OligoArray (RRID:SCR_010961) Copy   

•   Source: SciCrunch Registry

http://www.complex.iastate.edu/download/Picky/

A software tool for selecting optimal oligonucleotides (oligos) that allows the rapid and efficient determination of gene-specific oligos based on given gene sets, and can be used for large, complex genomes such as human, mouse, or maize.

Proper citation: Picky (RRID:SCR_010963) Copy   

•   Source: SciCrunch Registry

http://pbil.univ-lyon1.fr/roso/help.php

A software to design optimized oligonucleotide probes (size over 25 nucleotides) for microarrays.

Proper citation: ROSO (RRID:SCR_010967) Copy   

•   Source: SciCrunch Registry