hchacha 1.0.4

Human CHromosome Accession CHAnge - Convert between different human chromosome naming systems (of the same assembly/version)

hchacha - Human CHromosome Accession CHange

Translate among the different naming systems used for human chromosomes (of the same assembly)

Background

There are a number of different groups that participant in and/or provide reference human sequence data from the Genome Reference Consortium. However, the same reference sequence data for each chromosome get accessioned under different identifiers. This script converts among these identifiers (just within versions-- this is not a crossMap or liftOver), for several commonly-used file formats, including VCF, SAM, FASTA, chain files...

Why? Well, there are several conventions for the naming of human chromosomes. The "ensembl" style numbers them 1-22 then X and Y. The "ucsc" style (named after the UCSC genome browser, also used in GATK's reference bundles) prepends these with 'chr'. However, a downside of both of these is that '11' or 'chr11' do not uniquely identify a sequence (although they may in the context of a specific assembly version like GRCh38.p13. On the other hand, 'NC_000011.10' is a specific accessioned sequence (which happens to be the chromosome 11 sequence version used in the GRCh38 primary assembly. Likewise, the genbank accession rather than the refseq accession could be used.

Examples

hchacha --help

zcat input.vcf.gz | hchacha vcf -a 37 -t ensembl | bgzip -c > output.vcf.gz

samtools view -h input.bam | hchacha sam -a 38 -t refseq | samtools view -b > output.bam

Smarter handling for BAM/CRAM files

Since all you are doing is really renaming the sequences in the header (and individual BAM/CRAM records refer back to those sequence names by an integer index), you can do things much more quickly and with less CPU usage using samtools reheader if it is available on your system.

For example:

samtools reheader -P -c 'hchacha sam -a 38 -t ucsc -s' input.bam > output.bam

With some clever use of the tee command to output the new bam file and continue the shell pipeline going, you can even make the new index at the same time:

samtools reheader -P -c 'hchacha sam -a 38 -t ucsc -s' input.bam | tee output.bam | samtools index - output.bam.bai

Data used

NCBI provides a useful file (*.assembly_report.txt) for different GRCh reference versions and patch levels, for instance here, that maps among these names. To get the data included in the repository (for GRCh versions 37 and 38), I ran the bash script get-assembly-reports.bash (requires curl) whichh writes files to src/hchacha/data.

Mapping for ensembl names

The mapping to ensEMBL names is not quite as straightforward. It looks like they use the "short" names (like 1, 2, 3, ... X, Y) for the primary chromosomes, then RefSeq accessions for the others, so that is what this script does.

License

MIT license, but I am open to re-licensing this simple to script some other way if you have a good reason.

It is my understandig that data derived from RefSeq/NCBI are in the public domain as the work product of an institution of the governement of the United States of America.

Samtools (included as part of the docker image) is MIT/Expat licensed and Copyright (C) 2008-2023 Genome Research Ltd.