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JasperReports® - Free Java Reporting Library

Java 1,079 408 Updated Dec 13, 2024

OpenRefine is a free, open source power tool for working with messy data and improving it

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Java project that can be used for transformation of Journal Article Tag Suite XML to LaTeX

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Journal Article Tag Suite XML DTD library

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Retrieving HGNC gene symbol reports (human genes only) via a list of gene IDs.

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Language agnostic RESTful data access to Ensembl data over HTTP

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The code to run an Ensembl website

Perl 22 51 Updated Dec 3, 2024

Annotate genomics variations of hg19 by using a BED format database, which construct from NCBI annotation release 104

Perl 19 5 Updated Aug 4, 2023

Imports PharmGKB external ids from files downloaded from PharmGKB website.

Java 2 Updated Apr 19, 2024

A phenotype-based tool for variant prioritization in WES and WGS data

Java 37 13 Updated Nov 21, 2022

web-based analysis tool for rare disease genomics

Python 177 89 Updated Dec 14, 2024

hail-based pipelines for annotating variant callsets and exporting them to elasticsearch

Python 22 20 Updated Dec 13, 2024

Repo for downloading and storing OMIM data

Python 18 9 Updated Oct 6, 2016

phenol: Phenotype ontology library

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setupvpn for chrome

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Mutation testing for Python

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dbVar

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ncbi-vdb

C 89 39 Updated Dec 14, 2024

Scripts to download genomes from the NCBI FTP servers

Python 964 173 Updated Aug 6, 2024

The Pharmacogenomic Clinical Annotation Tool

Java 124 39 Updated Dec 12, 2024

Java wrapper for NCBI Variation API Services

Java 1 1 Updated May 20, 2022

Phenotype-based Diagnosis Tool for Rare Diseases

Java 6 4 Updated Sep 9, 2024

a web application to search and navigate the Human Phenotype Ontology (HPO)

HTML 13 12 Updated Oct 28, 2024

HPO Annotation QC

Java 11 2 Updated Aug 13, 2024

PhenoteFX

Java 4 1 Updated Oct 3, 2024

Java library to map LOINC-encoded test results to Human Phenotype Ontology

Java 30 8 Updated Jan 16, 2024

eXtasy: Variant Prioritization by Genomic Data Fusion

Ruby 13 2 Updated Feb 19, 2014
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