Pinned Repositories
cre
excel report generation using data from bcbio variant2 germline pipeline
crg
clinical reseach genome scripts
crg2
Research pipeline for exploring clinically relevant genomic variants
stager
Share genomic and exomic datasets and request analyses. Deployed for Care4Rare.
StructuralVariantAnalysis
Scripts for a comprehensive structural variant analysis pipeline
NGS_reports
Scripts for sorting genetic mutations into Mendelian inheritance patterns, and annotations to assist with prioritizing candidate disease mutations
slivar_reports
sv_benchmarking
scripts for benchmarking SV calls against gnomAD reference set
trgt
Tandem repeat genotyping and visualization from PacBio HiFi data
XYalign
Identifying, understanding, and correcting technical biases on the sex chromosomes in next-generation sequencing data
Madelinehazel's Repositories
Madelinehazel/NGS_reports
Scripts for sorting genetic mutations into Mendelian inheritance patterns, and annotations to assist with prioritizing candidate disease mutations
Madelinehazel/slivar_reports
Madelinehazel/sv_benchmarking
scripts for benchmarking SV calls against gnomAD reference set