GitHub topics: exome-sequencing

Repositories

fullscreen-triangle/gospel

Python framework for comprehensive variant detection in whole genome sequences using advanced machine learning models for cross domain pattern recognition in fitness, pharmacogenetics and nutritional aspects of sprint running

Language: Makefile - Size: 60 MB - Last synced at: 18 days ago - Pushed at: 18 days ago - Stars: 1 - Forks: 0

starsareintherose/RGBEPP

Reference Genome based Exon Phylogeny Pipeline

Language: D - Size: 83 KB - Last synced at: 3 months ago - Pushed at: 3 months ago - Stars: 0 - Forks: 0

LilValero/Human-Exome-Variant-calling-Using-Illumina-Data

Bioinformatics pipeline for Illumina human exome variant calling using FastQC, Trimmomatic, BWA, Samtools, Bcftools, and SnpEff. Demonstrates a reproducible workflow for NGS data analysis. #bioinformatics #genomics #variant-calling #ngs #pipeline

Language: HTML - Size: 638 MB - Last synced at: 4 months ago - Pushed at: 4 months ago - Stars: 0 - Forks: 0

KrasnitzLab/RAIDS

Accurate and robust inference of genetic ancestry from cancer-derived molecular data across genomic platforms

Language: R - Size: 9.37 MB - Last synced at: 20 days ago - Pushed at: 4 months ago - Stars: 5 - Forks: 4

GiatrasKon/Chromosome11-VariantCalling-GATK

A streamlined pipeline for germline variant calling on chromosome 11 using GATK. This repository includes workflows for data preprocessing, variant discovery, and annotation, with a focus on understanding genetic variations linked to disease-associated genes.

Language: R - Size: 10.2 MB - Last synced at: 2 months ago - Pushed at: 9 months ago - Stars: 0 - Forks: 1

lucianhu/Masterarbeit

Leveraging WES short reads for PAN-EXOME creation and analysis.

Language: WDL - Size: 18.6 MB - Last synced at: 10 months ago - Pushed at: 10 months ago - Stars: 0 - Forks: 0

gustaveroussy/EaCoN

Easy Copy Number !

Language: R - Size: 3.06 MB - Last synced at: 10 days ago - Pushed at: 10 days ago - Stars: 21 - Forks: 14

tjbencomo/ngs-pipeline

Pipeline for Somatic Variant Calling with WES and WGS data

Language: Python - Size: 12.3 MB - Last synced at: 10 months ago - Pushed at: over 1 year ago - Stars: 20 - Forks: 4

bioinf/afpaper

Scripts and data processing notes for Russian exome sequencing AF paper

Language: R - Size: 17.3 MB - Last synced at: over 1 year ago - Pushed at: about 5 years ago - Stars: 1 - Forks: 0

BU-ISCIII/exome_pipeline 📦

Miscellaneous pipelines for genomics computation analysis in a SGE HPC platform.

Language: Shell - Size: 199 MB - Last synced at: 2 months ago - Pushed at: over 5 years ago - Stars: 1 - Forks: 0

nf-core/exoseq 📦

Please consider using/contributing to https://github.com/nf-core/sarek

Language: Nextflow - Size: 2.77 MB - Last synced at: over 1 year ago - Pushed at: over 6 years ago - Stars: 14 - Forks: 25

cibiobcg/EthSEQ

Ethnicity Annotation from Whole-Exome and Targeted Sequencing Data

Language: R - Size: 18.5 MB - Last synced at: over 1 year ago - Pushed at: over 2 years ago - Stars: 11 - Forks: 10

matheuscburger/Excavator2

A fork of the project Excavator2 from sourceforge.

Language: R - Size: 1.35 MB - Last synced at: almost 2 years ago - Pushed at: about 8 years ago - Stars: 8 - Forks: 1

marislab/create-pptc-pdx-oncoprints

As part of an overall strategy for improving therapies for childhood cancers, the PPTC seeks to develop models for the types of tumors that will be encountered in early phase clinical testing by establishing patient derived xenografts (PDXs) from high-risk childhood cancers refractory to current standard of care treatments. Genomic profiling of these models is required to enable PPTC investigators to develop robust "responder hypotheses" when drug activity is observed. With funding provided by Alex's Lemonade Stand Foundation, we genomically characterize a major subset of 286 PDX models. We use whole exome sequencing, transcriptome sequencing, and SNPArray to characterize the tumor models. The focus on DNA and RNA sequencing data mirrors the current standard practice in most clinical diagnostics lab that use these technologies to detect the spectrum of targetable mutations, gene amplifications, and gene fusion events relevant to preclinical drug development.

Language: R - Size: 67.4 MB - Last synced at: almost 2 years ago - Pushed at: over 5 years ago - Stars: 3 - Forks: 2