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Genome assembly decoy sequences

This repository contains fasta files for pre-alignments. These are useful for studies of repeats, mtDNA, or using as decoy sequences.

Contents:

Repeats

  • human_alu.fa - Manually curated sequences from GenBank for alu elements.
  • human_alphasat.fa - Manually curated sequences from GenBank annotated for centromeric or alpha-satellite DNA repeats.
  • human_rDNA.fa - Complete human ribosomal repeat unit
  • mouse_rDNA.fa - Complete mouse ribosomal repeat unit (from GenBank).
  • human_repeats.fa: a combination of the 3 of above (alu, alphasat, and rDNA) , produced with cat human_alu.fa human_alphasat.fa human_rDNA.fa > human_repeats.fa.

mtDNA

  • rCRSd.fa is the Revised Cambridge Reference Sequence (rCRS) of the Human Mitochondrial DNA obtained from NC_012920. It is duplicated (pasted 2 times, one right after another) to simulate circular DNA for aligners that do not have a circular setting (hence the appended d to the name). This is the assembly used in hg38.
  • RSRS.fa is from this paper.
  • eve1.fa is from this paper.
  • human_chrM2x - Doubled chrM derived from AF347015, the African Yoruban sequence used in the hg19 assembly.
  • mouse_chrM2x - Doubled chrM derived from mm10 reference.

Pre-built indexes

You can download pre-built refgenie reference genomes indexes for use in pipelines here:

To use these with pypiper pipelines, just unzip the folder and place in your genomes folder (e.g. $GENOMES).

Built it yourself

Build genome references for these decoy sequences using refgenie like this:

refgenie.py -i hg19_alphasat.fa

A complete setup:

GENOMES=decoy_genomes

pip install --user --upgrade https://github.com/epigen/pypiper/zipball/master
git clone https://github.com/databio/ref_decoy.git
git clone https://github.com/databio/refgenie.git

for fa_file in `ls ref_decoy/*.fa`; do python refgenie/src/refgenie.py -i $fa_file; done

Or, using the refgenie docker image (adds -d):

for fa_file in `ls ref_decoy/*.fa`; do python refgenie/src/refgenie.py -d -i $fa_file; done

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