variant-annotation
Here are 27 public repositories matching this topic...
OpenCRAVAT as a GenePattern module
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May 27, 2020 - Python
A flexible variant annotator written in Python
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Jul 11, 2017
A tool for prioritising identity-by-descent (IBD) variants in Whole Genome Sequencing (WGS) data from families with rare heritable diseases.
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Jan 5, 2023 - Shell
GPF: Genotypes and Phenotypes in Families
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Aug 17, 2024 - Python
COVID-19 Variants Repository
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Nov 18, 2020
Pipeline for variant annotation using Variant Effect Predictor (VEP)
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Jun 26, 2024 - Jupyter Notebook
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Feb 28, 2022 - R
Neighborhood-Aware Variant Impact Predictor
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Feb 3, 2024 - Python
A tool for analysis of genomic variants in human genomes.
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Sep 10, 2021 - JavaScript
Variant Calling and Annotation using PacBio Hi-Fi Reads
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Jul 3, 2024 - WDL
Human mitochondrial variants annotation using HmtVar.
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Oct 16, 2023 - Python
Summarize SNV and indel information on single gene or genome level together with other relevant statistics based on .vcf files.
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Aug 16, 2024 - Java
Analysis pipleine to model tumour clonal evolution from WGS data (driver annotation, quality control of copy number calls, subclonal and mutational signature deconvolution)
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Aug 7, 2024
Add functional variant annotation to MAF file
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Mar 16, 2023 - R
Library for indexing VCF files for random access searches by rsID
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Aug 14, 2023 - Python
2019 Genomics Epidemiology Workshop at Academia Sinica
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Aug 22, 2019 - Perl
The DKFZ-ODCF, formerly DKFZ/eilslabs SNV-Calling Workflow
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May 31, 2024 - Python
Annotate genomics variations of hg19 by using a BED format database, which construct from NCBI annotation release 104
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Aug 4, 2023 - Perl
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