exome-sequencing

There are 23 repositories under exome-sequencing topic.

  • gustaveroussy/EaCoN

    Easy Copy Number !

    Language:R2031414

  • tjbencomo/ngs-pipeline

    Pipeline for Somatic Variant Calling with WES and WGS data

    Language:Python204574

  • nf-core/exoseq

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

    Language:Nextflow161732628

  • cibiobcg/EthSEQ

    Ethnicity Annotation from Whole-Exome and Targeted Sequencing Data

    Language:R130810

  • matheuscburger/Excavator2

    A fork of the project Excavator2 from sourceforge.

    Language:R9211

  • SciLifeLab/NGI-ExoSeq

    This pipeline has moved! Please see:

    Language:Groovy810176

  • cliu32/athlates

    Language:Perl5340

  • KrasnitzLab/RAIDS

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

    Language:R52184

  • 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:R3502

  • mframpton/transplot

    The transplot package can be used to make multi-track plots of Next Generation Sequencing (NGS) data for gene transcripts, namely for depth of coverage and for the distribution of variants and protein domains.

    Language:Python3310

  • sdhutchins/vcf-prepping

    Scripts used on a cluster that demonstrate vcf file manipulation and preparation.

    Language:Shell321

  • manojmw/MultiOmics-ExomeSeq-Phenotype

    Main Repository for my MASTER'S THESIS PROJECT

    Language:Python2300

  • bioinf/afpaper

    Scripts and data processing notes for Russian exome sequencing AF paper

    Language:R1500

  • BU-ISCIII/exome_pipeline

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

    Language:Shell1611

  • gari3008ma/RNA-seq

    colorectal cancer

    1201

  • pasted/variant_parser

    Selects possible pathogenic variants from an Alamut output

    Language:Ruby1110

  • jiatuya/SNV_prediction_model

    Note: This is a detailed Intro to this project. A brief users guide can be found at users_guide.md

    Language:Jupyter Notebook0000

  • leahkemp/hyperparathyroid_analysis_20221102

    Analysis documentation for research into the variants associated with hyperparathyroidism. Illumina, germline, human, whole exome sequence (WES) data from the CCDHB.

    Language:Shell0201

  • lucianhu/Masterarbeit

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

    Language:WDL0100

  • starsareintherose/RGBEPP

    Reference Genome based Exon Phylogeny Pipeline

    Language:D0100

  • Grelot/diabetesGenetics--COAT

    COverage Analysis Tool have been developed in 2016. It aims to automatically find bad quality regions of coding sequences in a set of sequencing data. It includes a graphical interface.

    Language:Python20

  • pasted/trio_generator

    Example workflow to generate a trio VCF from parental data

    Language:Ruby21

  • rivas-lab/ibd-exomes

    All QC, annotation, and analyses for IBD exomes

    Language:Jupyter Notebook20