Identify which human reference genome was used to align a BAM/SAM/CRAM file

Whole genome sequencing analysis pipeline for consumer hardware. 100% local, Docker-powered, free and open source.

Local-first 23andMe and DTC DNA raw data to VCF 4.2 converter with PySide6 GUI, GRCh37/GRCh38 detection, and dbSNP/FASTA REF lookup

Code for webscraping details about SNPs using RS IDs from dbSNP

Modular shell pipeline for adapter trimming, genome alignment to GRCh38, and chromosome-level read mappability profiling using Bowtie2 and SAMtools

Benchmarking SV detection across GRCh38, T2T-CHM13, and HPRC pangenome graph references using short-read and long-read WGS.

Independent AI-based structural genome analysis framework using GRCh38.p14 for genome-wide structural feature extraction.

Genome-wide association study pipeline for primary lymphedema, secondary lymphedema, and lipedema within the All of Us Research Program (data v8)