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https://github.com/brentp/somalier

Software application for rapid relatedness estimation for cancer and germline studies using efficient genome sketches extract informative sites, evaluate relatedness, and perform quality-control on BAM/CRAM/BCF/VCF/GVCF. Used for rapid relatedness estimation for cancer and germline studies using efficient genome sketches.

Proper citation: somalier (RRID:SCR_028167) Copy   

•   Source: SciCrunch Registry

https://github.com/YingMa0107/CARD/

Software R package for spatial transcriptomics. Deconvolution method that combines cell-type-specific expression information from single-cell RNA sequencing (scRNA-seq) with correlation in cell-type composition across tissue locations.

Proper citation: Conditional AutoRegressive Deconvolution (RRID:SCR_026310) Copy   

•   Source: SciCrunch Registry

https://github.com/agshumate/Liftoff

Software genome annotation lift-over tool capable of mapping genes between two assemblies of the same or closely related species. Aligns genes from reference genome to target genome and finds the mapping that maximizes sequence identity while preserving the structure of each exon, transcript and gene. Used for accurate mapping of gene annotations.

Proper citation: Liftoff (RRID:SCR_026535) Copy   

•   Source: SciCrunch Registry

https://github.com/kaizhang/SnapATAC2

Software Python/Rust package for single-cell epigenomics analysis.

Proper citation: SnapATAC2 (RRID:SCR_026622) Copy   

•   Source: SciCrunch Registry

https://github.com/higlass/higlass

Web-based visual exploration and analysis of genome interaction maps.

Proper citation: HiGlass (RRID:SCR_026687) Copy   

•   Source: SciCrunch Registry

https://bioconductor.org/packages/release/bioc/html/apeglm.html

Software package provides Bayesian shrinkage estimators for effect sizes for variety of GLM models, using approximation of posterior for individual coefficients.

Proper citation: apeglm (RRID:SCR_026951) Copy   

•   Source: SciCrunch Registry

https://github.com/Danko-Lab/dREG

Software tool for detecting regulatory elements using GRO-seq and PRO-seq.

Proper citation: dREG (RRID:SCR_027012) Copy   

•   Source: SciCrunch Registry

https://github.com/KrishnaswamyLab/PHATE

Software tool for visualizing high dimensional data using novel conceptual framework for learning and visualizing manifold to preserve both local and global distances.

Proper citation: PHATE (RRID:SCR_027119) Copy   

•   Source: SciCrunch Registry

https://github.com/Yonghao-Holden/TEProf3

Software pipeline to detect Transposable Elements transcripts. Used to identify TE-derived promoters and transcripts using transcriptomic data from multiple sources, including short-read RNA-seq data, long-read RNA-seq data and single cell RNA-seq data.

Proper citation: TEProf3 (RRID:SCR_027288) Copy   

•   Source: SciCrunch Registry

http://www.genome.gov/12514286

Current Topics in Genome Analysis lecture series consists of 13 lectures on successive Wednesdays, with a mixture of local and outside speakers covering the major areas of genomics. In this tenth edition of the series, rather than splitting the lectures into laboratory-based and computationally-based blocks, we have intermingled the lectures by general subject area. We hope that this approach conveys the idea that both laboratory- and computationally-based approaches are necessary in order to do cutting-edge biological research in the future. The lectures are geared at the level of first year graduate students, are practical in nature, and are intended for a diverse audience. Handouts will be provided for each lecture, and time will be available at the end of each lecture for questions and discussion. All lectures are held on Wednesday mornings from 9:30 a.m. to 11:00 a.m. in the Lipsett Amphitheatre of the National Institutes of Health Clinical Center (Building 10). Course Directors: Andy Baxevanis, Ph.D., Eric Green, M.D., Ph.D., Tyra Wolfsberg, Ph.D. Lectures in this series will be available on the GenomeTV channel of YouTube viewing shortly after the live lecture and also includes all of the handouts. Lectures will not be Webcast live. The lecture series archives (available from 2005-) covers important milestones in genetics. CME Credits: This activity has been approved for AMA PRA Category 1 Credits. The intended audience includes clinicians, clinical geneticists, social and behavioral scientists, genetic counselors, those involved with genetics and public policy, health educators, and other biomedical and clinical scientists with an interest in genetics, genomics and personalized medicine. No prior expertise on the part of the audience will be required and the lecturers will be instructed to provide any relevant background as part of their lectures.

Proper citation: Current Topics in Genome Analysis (RRID:SCR_006475) Copy   

•   Source: SciCrunch Registry

https://github.com/pacificbiosciences/trgt

Software tool for plotting pureTarget repeat panel results (generates waterfall plot). Used for Tandem repeat genotyping and visualization from PacBio HiFi data.

Proper citation: TRGT (RRID:SCR_028810) Copy   

•   Source: SciCrunch Registry

http://ccb.jhu.edu/software/ASprofile/

A suite of programs for extracting, quantifying and comparing alternative splicing (AS) events from RNA-seq data.

Proper citation: ASprofile (RRID:SCR_001833) Copy   

•   Source: SciCrunch Registry

http://mousecyc.jax.org/

A manually curated database of both known and predicted metabolic pathways for the laboratory mouse. It has been integrated with genetic and genomic data for the laboratory mouse available from the Mouse Genome Informatics database and with pathway data from other organisms, including human. The database records for 1,060 genes in Mouse Genome Informatics (MGI) are linked directly to 294 pathways with 1,790 compounds and 1,122 enzymatic reactions in MouseCyc. (Aug. 2013) BLAST and other tools are available. The initial focus for the development of MouseCyc is on metabolism and includes such cell level processes as biosynthesis, degradation, energy production, and detoxification. MouseCyc differs from existing pathway databases and software tools because of the extent to which the pathway information in MouseCyc is integrated with the wealth of biological knowledge for the laboratory mouse that is available from the Mouse Genome Informatics (MGI) database.

Proper citation: MouseCyc (RRID:SCR_001791) Copy   

•   Source: SciCrunch Registry

https://github.com/hms-dbmi/spp

R analysis and processing package for Illumina platform Chip-Seq data.

Proper citation: SPP (RRID:SCR_001790) Copy   

•   Source: SciCrunch Registry

http://provean.jcvi.org/

A software tool which predicts whether an amino acid substitution or indel has an impact on the biological function of a protein.

Proper citation: PROVEAN (RRID:SCR_002182) Copy   

•   Source: SciCrunch Registry

http://compgen.bscb.cornell.edu/phast/

A freely available software package for comparative and evolutionary genomics that consists of about half a dozen major programs, plus more than a dozen utilities for manipulating sequence alignments, phylogenetic trees, and genomic annotations. For the most part, PHAST focuses on two kinds of applications: the identification of novel functional elements, including protein-coding exons and evolutionarily conserved sequences; and statistical phylogenetic modeling, including estimation of model parameters, detection of signatures of selection, and reconstruction of ancestral sequences. It consists of over 60,000 lines of C code.

Proper citation: PHAST (RRID:SCR_003204) Copy   

•   Source: SciCrunch Registry

http://www.bioontology.org

Organization that provides biomedical researchers with online tools and a web portal enabling them to access, review, and integrate disparate ontological resources in all aspects of biomedical investigation and clinical practice. A major focus of the work involves the use of biomedical ontologies to aid in the management and analysis of data derived from complex experiments.

Proper citation: National Center for Biomedical Ontology (RRID:SCR_003304) Copy   

•   Source: SciCrunch Registry

http://smd.princeton.edu/

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on December 17, 2021. Database to store, annotate, view, analyze and share microarray data. It provides registered users access to their own data, provides users access to public data, and tools with which to analyze those data, to any public user anywhere in the world. The GenePattern software package has been incorporated directly into SMD, providing access to many new analysis tools, as well as a plug-in architecture that allows users to directly integrate and share additional tools through SMD. This extension is available with the SMD source code that is fully and freely available to others under an Open Source license, enabling other groups to create a local installation of SMD with an enriched data analysis capability. SMD search options allow the user to Search By Experiments, Search By Datasets, or Search By Gene Names. Web services are provided using common standards, such as Simple Object Access Protocol (SOAP). This enables both local and remote researchers to connect to an installation of the database and retrieve data using pre-defined methods, without needing to resort to use of a web browser.

Proper citation: SMD (RRID:SCR_004987) Copy   

•   Source: SciCrunch Registry

http://ccb.jhu.edu/software/FLASH/

Open source software tool to merge paired-end reads from next-generation sequencing experiments. Designed to merge pairs of reads when original DNA fragments are shorter than twice length of reads. Can improve genome assemblies and transcriptome assembly by merging RNA-seq data.

Proper citation: FLASH (RRID:SCR_005531) Copy   

•   Source: SciCrunch Registry

http://www.phrap.org/consed/consed.html

A graphical tool for sequence finishing (BAM File Viewer, Assembly Editor, Autofinish, Autoreport, Autoedit, and Align Reads To Reference Sequence)

Proper citation: Consed (RRID:SCR_005650) Copy   

•   Source: SciCrunch Registry