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SUNK-based contig scaffolding pipeline

This repository contains a snakemake to assist in the targeted assembly of complex, repetitive regions using singly unique nucleotide k-mers (SUNKs). This version was specifically used for the targeted assembly of centromeres in CHM1 (an effectively haploid genome). You can find a version for diploid assemblies in the branch “diploid”.

Input requires:

  • hifi_assembly: haploid HiFi assembly
  • hifi_fofn: file with paths to HiFi fastq files
  • ont_fofn: file with paths to ONT fastq files
  • contig_bed: bed file with contigs to scaffold

Output:

PAF of ONT reads that links two contigs that have SUNK placement support (>2 SUNK matches between ONT read and assembly, and alignment length >50 kbp). Output will be available along this path:

{sample}/join_reads/{kmer_size}/{region}/{map}-{remap}/joining_reads.paf 

To Run on Eichler Lab Cluster

snakesub -j 40

Currently operates using the Eichler lab module system. Currently updating snakemake to use conda envs for off-cluster availability

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