147 skills found · Page 1 of 5
brianwernick / ExoMediaAn Android ExoPlayer wrapper to simplify Audio and Video implementations
brentp / Mosdepthfast BAM/CRAM depth calculation for WGS, exome, or targeted sequencing
Feuerlabs / ExometerBasic measurement objects and probe behavior
Marcisbee / Exome🔅 State manager for deeply nested states
exomiser / ExomiserA Tool to Annotate and Prioritize Exome Variants
Feuerlabs / Exometer CoreCore components of exometer
BoevaLab / FREECControl-FREEC: Copy number and genotype annotation in whole genome and whole exome sequencing data
SigProfilerSuite / SigProfilerMatrixGeneratorSigProfilerMatrixGenerator creates mutational matrices for all types of somatic mutations. It allows downsizing the generated mutations only to parts for the genome (e.g., exome or a custom BED file). The tool seamlessly integrates with other SigProfiler tools.
nf-core / OncoanalyserA comprehensive cancer DNA/RNA analysis and reporting pipeline
vplagnol / ExomeDepthExomeDepth R package for the detection of copy number variants in exomes and gene panels using high throughput DNA sequencing data.
xihaoli / STAARpipelineAn R package for performing association analysis of whole-genome/whole-exome sequencing (WGS/WES) studies using STAARpipeline
gatk-workflows / Gatk4 Exome Analysis PipelineThis WDL pipeline implements data pre-processing and initial variant calling according to the GATK Best Practices for germline SNP and Indel discovery in human exome sequencing data.
patidarr / Ngs PipelineExome/Capture/RNASeq Pipeline Implementation using snakemake
pughlab / BamgineerBamgineer: Introduction of simulated allele-specific copy number variants into exome and targeted sequence data sets
travelping / Exometer InfluxdbExometer reporter for InfluxDB
ZW-xjtlu / ExomePeak2Peak calling and differential methylation for MeRIP-Seq
raonyguimaraes / MendelmdAn online tool for annotating, filtering and diagnosing patients (Exome and Genome) with Mendelian Disorders.
xihaoli / STAARpipeline TutorialThe tutorial for performing single-/multi-trait association analysis of whole-genome/whole-exome sequencing (WGS/WES) studies using FAVORannotator, STAARpipeline and STAARpipelineSummary
astrazeneca-cgr-publications / PEACOKPhenome Exome Association and Correlation Of Key phenotypes
ajaynadig / BhrSuite of heritability and genetic correlation estimation tools for exome-sequencing data
