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Search results for genomics variant analysis

variant-analysis x

14 search results found

Python library to parse, format, validate, normalize, and map sequence variants. `pip install hgvs`

genetic variant expressions, annotation, and filtering for great good.

Echtvar ⭐ 124

using all the bits for echt rapid variant annotation and filtering

Open Cravat ⭐ 98

A modular annotation tool for genomic variants

simuG: a general-purpose genome simulator

Arioc: GPU-accelerated DNA short-read alignment

Biocommons.seqrepo ⭐ 34

non-redundant, compressed, journalled, file-based storage for biological sequences

High-level API for storing and querying sequence variant data

Bioutils ⭐ 16

provides common tools and lookup tables used primarily by the hgvs and uta packages

[in development] Proof-of-Concept variation translation, validation, and registration service

a C++ API of htslib to be easily integrated and safely used. More importantly, it can be callled seamlessly in R/Python/Julia etc.

Triti Map ⭐ 9

A Snakemake-based pipeline for gene mapping in Triticeae.

Virtual Normal Correction ⭐ 6

Set of commandline tools for analysis of tumor variants without a matching normal. Method described in Genome Research: http://genome.cshlp.org/content/25/9/1382.full

Identification and classification of homopolymeric tracts from reads.

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