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Command line tool to generate documentation in the form of a model card

Python 7 Updated Jan 13, 2025

A list of interesting genome browser and genome visualization programs

TypeScript 965 122 Updated May 16, 2025

Spriggan is a pipeline used for assembly of bacterial whole genome sequence data and identification of antibiotic resistance genes.

Python 16 3 Updated May 22, 2025

Harmonization of AMR predictor tool outputs

Python 26 9 Updated Jan 14, 2025

Pipeline to fetch metadata and raw FastQ files from public databases

Nextflow 175 81 Updated May 19, 2025

Parse multiple Antimicrobial Resistance Analysis Reports into a common data structure

Python 156 30 Updated Jan 17, 2025

NEAT (NExt-generation Analysis Toolkit) simulates next-gen sequencing reads and can learn simulation parameters from real data.

Python 55 16 Updated Apr 3, 2025

SMN1 copy-number and sequence variant analysis from next generation sequencing data

Python 23 7 Updated May 9, 2023

HiFi-based caller for highly similar paralogous genes

Python 42 8 Updated May 2, 2025

A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS

Python 49 12 Updated Oct 14, 2023

Qualitative data analysis for text, images, audio, video. Cross platform. Python 3.10 or newer and PyQt6.

Python 453 95 Updated May 24, 2025

Learning the Variant Call Format

Perl 139 40 Updated Mar 25, 2024

Pregnancy Infomation Needs Ontology

1 Updated Jul 30, 2021

Managing windows size and position in OSX

Objective-C 5,548 363 Updated Nov 20, 2023

A ShiftIt like Hammerspoon window management configuration

Lua 489 29 Updated Jul 14, 2023

NCBI Datasets is a new resource that lets you easily gather data from across NCBI databases.

Jupyter Notebook 421 50 Updated May 19, 2025
HTML 1 Updated Aug 12, 2021

Lynis - Security auditing tool for Linux, macOS, and UNIX-based systems. Assists with compliance testing (HIPAA/ISO27001/PCI DSS) and system hardening. Agentless, and installation optional.

Shell 14,208 1,527 Updated Apr 1, 2025

A tool for estimating repeat sizes

C++ 192 51 Updated Jan 30, 2024

Collect of SO Ontologies

Makefile 100 37 Updated Nov 18, 2024

Canvas - Copy number variant (CNV) calling from DNA sequencing data

C# 127 20 Updated Sep 3, 2019

Clinical Quality Language (CQL) is an HL7 specification for the expression of clinical knowledge that can be used within both the Clinical Decision Support (CDS) and Clinical Quality Measurement (C…

Java 280 129 Updated May 22, 2025

Google Drive CLI Client

Go 8,974 1,184 Updated Apr 19, 2023

The open-source version of PhenoTips is no longer maintained. PhenoTips makes it simple to record clinical findings observed in patients with possible genetic disorders through an easy-to-use Web i…

Java 102 64 Updated May 3, 2022

Validate FastQ Files

C++ 36 11 Updated Oct 30, 2018

Match up paired end fastq files quickly and efficiently.

C 149 33 Updated Jun 2, 2024

Parse Illumina sample sheets with Python

Python 50 16 Updated Mar 20, 2024

BEETL

C++ 96 24 Updated Apr 15, 2023

Read trimming tool for Illumina NGS data.

Java 136 91 Updated Mar 10, 2015

a Medical Genetics Sequence Analysis Pipeline

PHP 83 22 Updated May 22, 2025
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