variant-annotation
Here are 26 public repositories matching this topic...
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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May 30, 2024
OpenCRAVAT as a GenePattern module
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May 27, 2020 - Python
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
A flexible variant annotator written in Python
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Jul 11, 2017
GPF: Genotypes and Phenotypes in Families
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May 31, 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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May 28, 2024 - Jupyter Notebook
Human mitochondrial variants annotation using HmtVar.
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Oct 16, 2023 - Python
Variant Calling and Annotation using PacBio Hi-Fi Reads
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Mar 22, 2024 - WDL
A tool for analysis of genomic variants in human genomes.
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Sep 10, 2021 - JavaScript
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Feb 28, 2022 - R
Neighborhood-Aware Variant Impact Predictor
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Feb 3, 2024 - Python
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
💻 Command line interface for Genome Nexus 🧬
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Apr 29, 2023 - TypeScript
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