Topic: variant-analysis Goto Github
Some thing interesting about variant-analysis
Some thing interesting about variant-analysis
variant-analysis,A tool for prioritising identity-by-descent (IBD) variants in Whole Genome Sequencing (WGS) data from families with rare heritable diseases.
User: a-thind
variant-analysis,Variant annotation and filtration server ALAPY Genome Explorer
Organization: alapy
variant-analysis,Atom is a novel intermediate representation for applications and a standalone tool that is powered by chen.
Organization: appthreat
Home Page: https://appthreat.com
variant-analysis,A tool for automatic classification of sequence variants according to ACMG criteria.
Organization: bihealth
variant-analysis,EmbedPVP: Embedding-based Phenotype Variant Predictor
Organization: bio-ontology-research-group
Home Page: https://www.biorxiv.org/content/10.1101/2023.11.08.566179v1
variant-analysis,A phenotype-based tool for variant prioritization in WES and WGS data
Organization: bio-ontology-research-group
variant-analysis,[in development] Proof-of-Concept variation translation, validation, and registration service
Organization: biocommons
Home Page: https://github.com/biocommons/anyvar
variant-analysis,non-redundant, compressed, journalled, file-based storage for biological sequences
Organization: biocommons
variant-analysis,provides common tools and lookup tables used primarily by the hgvs and uta packages
Organization: biocommons
variant-analysis,Python library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`
Organization: biocommons
Home Page: https://hgvs.readthedocs.io/
variant-analysis,OpenAPI-based REST interface to biological sequences and sequence metadata
Organization: biocommons
variant-analysis,Identification of molecular markers for sports performance
Organization: bioinfonupeb
variant-analysis,using all the bits for echt rapid variant annotation and filtering
User: brentp
Home Page: https://academic.oup.com/nar/advance-article/doi/10.1093/nar/gkac931/6775383
variant-analysis,genetic variant expressions, annotation, and filtering for great good.
User: brentp
variant-analysis,visual analysis of your VCF files
User: cccnrc
variant-analysis,A python command line based script for extraction of annotated variants from VCF file, generating variant proteome database and to check the uniqueness of variant proteins from the database search.
User: chinmayank22
variant-analysis,Filter a VCF to discard false positive variants
User: elowy01
variant-analysis,Deterministic and standard extractor of SNVs, indels and structural variants (SVs) from VCF files.
Organization: eucancan
Home Page: https://eucancan.github.io/variant-extractor/
variant-analysis,A Snakemake-based pipeline for gene mapping in Triticeae.
User: fei0810
variant-analysis,GitHub Satellite 2020 workshops on finding security vulnerabilities with CodeQL for Java/JavaScript.
Organization: githubsatelliteworkshops
variant-analysis,Reporting toolbox for happy output
Organization: illumina
Home Page: https://illumina.github.io/happyCompare
variant-analysis,R tools to interact with hap.py output
Organization: illumina
Home Page: https://illumina.github.io/happyR
variant-analysis,The Platinum Genomes Truthset
Organization: illumina
Home Page: https://illumina.github.io/PlatinumGenomes
variant-analysis,What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.
Organization: illumina
variant-analysis,Summarize SNV and indel information on single gene or genome level together with other relevant statistics based on .vcf files.
Organization: integrative-transcriptomics
Home Page: https://tuevis.cs.uni-tuebingen.de/musial/
variant-analysis,Automated Genomics Application for Variant Exploration (AGAVE)
Organization: jhuapl-bio
Home Page: https://jhuapl-bio.github.io/AGAVE
variant-analysis,Visualize microbial evolution at the SNP level!
User: jonas-fuchs
variant-analysis,This package scales the huge gnomAD files to a SQLite database, which is easy and fast to query. It extracts from a gnomAD vcf the minor allele frequency for each variant.
User: kalinnonchev
variant-analysis,A modular annotation tool for genomic variants
Organization: karchinlab
variant-analysis,A Latch Bio workflow to call DNA sequence variants
User: kensaville
variant-analysis,LOVD+ -- LOVD for diagnostics: analysis of whole-exome data using LOVD.
Organization: lovdnl
Home Page: http://www.LOVD.nl/plus
variant-analysis,High-level API for storing and querying sequence variant data
User: mklarqvist
variant-analysis,Tumor in normal detection
User: nagacombio
variant-analysis,A Prototype for Defining the Ancestral Alleles for Ones that Modify Human Phenotypes
Organization: ncbi-hackathons
variant-analysis,Mapping Clinically Relevant Mutations to Protein Structures
Organization: ncbi-hackathons
variant-analysis,Mapping complex genotypes to phenotypic subclusters
Organization: ncbi-hackathons
variant-analysis,A comprehensive platform for population-scale genomic analyses
User: nickzren
variant-analysis,A relational database stores per sample based sequencing data.
User: nickzren
variant-analysis,Targeted Panel Analysis pipeline
User: parvathisudha
variant-analysis,Hexrays Toolbox - Find code patterns within the Hexrays ctree
User: patois
variant-analysis,Identification and classification of homopolymeric tracts from reads.
Organization: quadram-institute-bioscience
variant-analysis,language-agnostic testing for inheritance models
Organization: quinlan-lab
variant-analysis,Arioc: GPU-accelerated DNA short-read alignment
User: rwilton
variant-analysis,Set of commandline tools for analysis of tumor variants without a matching normal. Method described in Genome Research: http://genome.cshlp.org/content/25/9/1382.full
User: shiltemann
variant-analysis,coccinelle notes and exercises
User: tin-z
variant-analysis,Create a set of reference-guided multiple-aligned haplotypes or founder sequences from a variant call file and a reference sequence.
User: tsnorri
variant-analysis,From SNP and structural variant calling to GWAS.
Organization: ucdavis-bioinformatics-training
variant-analysis,VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants
Organization: yandell-lab
variant-analysis,simuG: a general-purpose genome simulator
User: yjx1217
variant-analysis,a C++ API of htslib to be easily integrated and safely used. More importantly, it can be callled seamlessly in R/Python/Julia etc.
User: zilong-li
Home Page: https://doi.org/10.1093/bioinformatics/btae049
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