grch38

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

rust bioinformatics genomics sam bam reference-genome cram hg19 grch37 grch38 hg38

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

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

python bioinformatics gwas genomics all-of-us hail grch38 lymphedema lipedema

Code for webscraping details about SNPs using RS IDs from dbSNP

mutation dbsnp webscraping ncbi grch37 grch38

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

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