Snakemake based workflow for analysis of dnaseq data for calling germline/somatic mutations
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Updated
Sep 18, 2019 - Python
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germline-variants
Here are 9 public repositories matching this topic...
Super fast conversion of GVF file format to VCF file format
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Updated
Feb 10, 2023 - Python
Depository for Bioinformatics Master Project HT2022-VT2023
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Updated
Apr 18, 2023 - Python
Tool for automated classification of genetic variants according to ACMG criteria.
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Sep 9, 2024 - Python
Snakemake workflow to call germline variant
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Oct 15, 2019 - Python
Screening deleterious germline variants (DGVs) in WCM UC cohort
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Aug 10, 2020 - Python
Clinical Whole Genome and Exome Sequencing Pipeline
quality-control
snakemake
pipeline
somatic-variants
singularity
copy-number-variation
whole-exome-sequencing
whole-genome-sequencing
variant-annotation
hla-typing
germline-variants
variant-effect-prediction
structural-variants
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Updated
Nov 12, 2024 - Python
Snakemake-based workflow for detecting structural variants in genomic data
workflow
bioinformatics
snakemake
somatic-variants
cancer-genomics
wgs
hpc-applications
germline-variants
structural-variants
sv-calling
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Updated
Feb 13, 2024 - Python
Characterization of Germline variants
bioinformatics
annotations
clinical
variants
characterization
pathogenicity
clinvar
vep
diseases
pathogenic-variants
germline-variants
exac
acmg
gnomad
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Updated
Mar 15, 2022 - Python
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