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Reference-free profiling of polyploid genomes | We have developed GenomeScope 2.0, which applies classical insights from combinatorial theory to establish a detailed mathematical model of how k-mer frequencies will be distributed in heterozygous and polyploid genomes | Average k-mer coverage for polyploid genome | Upload results from running Jellyfish or KMC

ReSeq simulates realistic Illumina high-throughput sequencing data. More realistic simulator for genomic DNA sequences from Illumina machines that achieves a similar k-mer spectrum as the original sequences. Snakemake file to reproduce figures and tables in the ReSeq paper. This included the pipeline used to compare ReSeq, pIRS, NEAT and ART on 8 datasets, a bwa bowtie2 comparison with simulated data using ReSeq and various small things. Apply errors and qualities directly to sequences. Even though sequencing biases and errors have been deeply researched to adequately account for them, comparison studies, e.g. for error correction, assembly or variant calling, face the problem that synthetic datasets resemble the real output of high-throughput sequencers only in very limited ways, resulting in optimistic estimated performance of programs run on simulated data compared to real data.

Tools for haplotype-wise reconstruction of pseudomolecules

A quality assessment tool for genome assemblies and gene structure annotations. GenomeQC generates descriptive summaries with intuitive graphics for genome assembly and structural annotations. It also benchmarks user supplied assemblies and annotations against the publicly available reference genomes of their choice. It is optimized for small and medium sized genomes (<2.5 Gb) and has pre-computed results for several maize genomes.

Chromosome-scale sequence assembly of Triticeae genomes with open-source tools.

Reference-free profiling of polyploid genomes | Inference of ploidy and heterozygosity structure using whole genome sequencing data | Smudgeplots are computed from raw or even better from trimmed reads and show the haplotype structure using heterozygous kmer pairs. For example: | This tool extracts heterozygous kmer pairs from kmer dump files and performs gymnastics with them. We are able to disentangle genome structure by comparing the sum of kmer pair coverages (CovA + CovB) to their relative coverage (CovA / (CovA + CovB)). Such an approach also allows us to analyze obscure genomes with duplications, various ploidy levels, etc | GenomeScope 2.0 and Smudgeplots: Reference-free profiling of polyploid genomes Timothy Rhyker Ranallo-Benavidez, Kamil S. Jaron, Michael C. Schatz bioRxiv 747568; doi: https://doi.org/10.1101/747568