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A series of scripts to automate iterative linkage analysis using LINKDATAGEN and Merlin. See below for a more detailed explanation of this very niche linkage analysis tool.

Shell 1 Updated Jul 16, 2024

RNA-seq prediction with deep convolutional neural networks.

Python 151 20 Updated Mar 27, 2025

Phased assembly variant caller

Python 8000 115 8 Updated Dec 4, 2024

Rare Disease variant reanalysis tool

Python 15 7 Updated May 31, 2025

Detection of copy number changes in Germline/Trio/Somatic contexts in NGS data

R 85 4 Updated Feb 5, 2025
C++ 19 3 Updated Apr 1, 2025

Tandem repeat genotyping and visualization from PacBio HiFi data

Rust 117 12 Updated Apr 28, 2025

Tools for fast and flexible genome assembly scaffolding and improvement

Python 508 49 Updated Feb 14, 2024

A curated list of monogenic epilepsy genes

HTML 15 1 Updated Mar 20, 2025

A library of free open source icons for science illustrations in biology and chemistry

Vue 1,474 85 Updated May 30, 2025
Perl 3 Updated Sep 7, 2022

Create a magnified inset of part of a ggplot object

R 290 3 Updated Mar 2, 2025

DeepVariant is an analysis pipeline that uses a deep neural network to call genetic variants from next-generation DNA sequencing data.

Python 3,407 751 Updated May 16, 2025

The complete sequence of a human genome

961 100 Updated Nov 19, 2024

NMD Inducible Feature Finder

Jupyter Notebook 2 Updated Sep 22, 2022

A modern compressor for genomic files (FASTQ, SAM/BAM/CRAM, VCF, FASTA, GFF/GTF/GVF, 23andMe...), up to 5x better than gzip and faster too

C 166 14 Updated Apr 9, 2025

using all the bits for echt rapid variant annotation and filtering

Rust 153 10 Updated Mar 21, 2025

tools for working with Bisulfite Sequencing data while preserving reads intrinsic dependencies

Python 158 46 Updated May 18, 2025

Miscellaneous scripts for applications of PacBio systems

Python 27 11 Updated Apr 19, 2022
Papyrus 21 6 Updated Aug 8, 2022
Python 16 1 Updated Jan 15, 2025
R 39 11 Updated Apr 22, 2024

CLI tool for flexible and fast adaptive sampling on ONT sequencers

Python 182 35 Updated Apr 28, 2025

VATK! A collection of helper scripts to annotate and sort variants

Shell 1 1 Updated May 27, 2025
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