grch38

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.

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

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

Reproducible, containerized GRCh38 pipeline for annotation and comparison of synthetic SNVs and CNVs across four rare diseases.

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)

Bioconductor AnnotationHub package providing GENCODE Release 50 human GRCh38.p14 annotations as GRanges and TxDb resources.

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

Automated RNA-seq workflow using Snakemake, including FastQC, fastp, HISAT2 alignment to GRCh38, and samtools BAM processing.