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AI assistant to answer patient and healthcare provider questions related to pharmacogenetic testing and results.

Python 4 2 Updated Feb 12, 2024

Structural Variant Index

C 74 4 Updated Dec 13, 2024

TopMed SV QC scripts

Jupyter Notebook 1 Updated Jun 24, 2023

A tool to genotype CYP2D6 with WGS data

Python 53 6 Updated Oct 14, 2023

The Pharmacogenomic Clinical Annotation Tool

Java 135 43 Updated May 16, 2025

A phase-aware pharmacogenomic diplotyper for PacBio datasets

Rust 16 3 Updated May 15, 2025
Python 11 4 Updated Apr 9, 2024
Java 13 5 Updated May 21, 2025

Analysis pipeline for "Understanding the CYP family tree through deep mutational scanning: A joint analysis of CYP2C19 and 2C9 variant abundance"

1 1 Updated Sep 3, 2024

Multiplexed assays of variant effect for clinical variant interpretation

1 Updated Mar 20, 2025

Tools for the analysis of structural variation in genomes

Perl 79 14 Updated Mar 25, 2024

Structural variation caller using third generation sequencing

Python 594 96 Updated Apr 14, 2025

This repository contains information about latest release from Genome in a Bottle project

74 5 Updated Aug 30, 2019

Joint structural variant and copy number variant caller for HiFi sequencing data

Rust 52 2 Updated May 19, 2025

Personal website of Louis Le Nézet

HTML 1 Updated Mar 15, 2025

material for webpopix

HTML 1 1 Updated Apr 9, 2015

Open Targets ETL to process OpenFDA FAERS DB

Scala 10 Updated May 9, 2024

R Package for Star Allele Annotation

Python 4 1 Updated Mar 24, 2025

✨ The Next Gen Airtable Alternative: No-Code Postgres

TypeScript 18,534 921 Updated Jun 5, 2025

A local-first personal finance app

TypeScript 19,099 1,536 Updated Jun 4, 2025

mzmine source code repository

Java 227 138 Updated Jun 4, 2025

RawQuant is a Python package for extracting scan meta data and quantification values from Thermo .raw files.

Python 11 2 Updated Jan 4, 2019

VcfExplorer regroups several programs which principal aims are to map DNA and RNAseq data onto reference genome sequence, perform variant calling, manipulate vcf files, perform chromosome painting …

Python 14 6 Updated Mar 26, 2024

Haplofinder code for identifying bovine MHC haplotype pairs in ambiguous sequences

Python 2 Updated May 16, 2016

Third-generation fusion gene detection

Python 14 7 Updated Jul 25, 2023
Jupyter Notebook 8,442 606 Updated Jun 16, 2024

Posit Cheat Sheets - Can also be found at https://posit.co/resources/cheatsheets/.

TeX 6,078 1,881 Updated Apr 28, 2025

Transcriptome Annotation by Modular Algorithms (for long read RNA sequencing data)

Python 150 27 Updated Apr 12, 2023
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