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.

A pipeline for annotating long-read callsets.

Local, privacy-first analyser for your own whole-genome sequencing data: FASTQ to GRCh38 calls with DeepVariant on your own machine, graded against ClinVar, gnomAD and ClinGen, with pharmacogenomics (PharmCAT, CPIC), polygenic scores, haplogroups and repeat expansions. Nothing leaves your machine unless you ask; a monthly refresh shows what's new.

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

Open-source genetic variant database: a GRCh38 warehouse of genes, studied variants and their evidence from gnomAD, ClinVar, GENCODE, GTEx, the GWAS Catalog and MaveDB. Research use only.

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.

Demo: scan all 24 GRCh38 chromosomes by snapshotting one warm islo.dev sandbox and forking it per chromosome, checked against a known CpG-island gradient.

Pre-built Subread index for Human GRCh38. Skip the genome indexing step and download the ready-to-use index files instantly.

GRCh38 vs T2T-CHM13v2.0, per chromosome: +179.6 Mb non-N sequence and +40,492 Gardiner-Garden & Frommer CpG-rule windows. Composition only.

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.

Whole exome sequencing (WES) germline variant analysis of NA12878: bwa, bcftools and VEP pipeline benchmarked against GIAB v4.2.1 with hap.py

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.