Biotechnologist
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Unitat de Diagnòstic Molecular i Medicina Personalitzada
- Girona, Spain
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vcf2json Public
Convert an standard VCF to JSON format
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GRAPES2 Public
GRAPES2: Improved CNV/SV detection on gene panel sequencing
Shell UpdatedMay 21, 2024 -
ensembl-vep Public
Forked from Ensembl/ensembl-vepThe Ensembl Variant Effect Predictor predicts the functional effects of genomic variants
Perl Apache License 2.0 UpdatedFeb 2, 2024 -
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GRAPES Public
Integrated analysis of Structural and Copy Number Variants on clinical targeted sequencing data
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CharGer Public
Forked from ding-lab/CharGerCharacterization of Germline variants
Python GNU General Public License v3.0 UpdatedMar 15, 2022 -
SpliceMerger Public
Legacy code written with noobness, though it does the job.
Perl UpdatedJan 21, 2022 -
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igv.js Public
Forked from igvteam/igv.jsEmbeddable genomic visualization component based on the Integrative Genomics Viewer
JavaScript MIT License UpdatedNov 15, 2019 -
bioconda-recipes Public
Forked from bioconda/bioconda-recipesConda recipes for the bioconda channel.
Shell UpdatedOct 2, 2019 -
GenePanel-Multimap Public
Simple perl script to extract mappability from a ROI file