diff --git a/README.md b/README.md index c311274..ceb6a2e 100644 --- a/README.md +++ b/README.md @@ -1,12 +1,33 @@ [![License: MIT](https://img.shields.io/badge/License-MIT-yellow.svg)](https://opensource.org/licenses/MIT) ![snakemaker](https://github.com/AnimalGenomicsETH/bovine-assembly/workflows/snakemaker/badge.svg?branch=master) -# bovine-assembly +# Bovine pangenomes -Currently under active development. This repo contains pipelines designed to assembly, validate, and compare bovine assemblies for multiple sequencing technologies and assembler strategies. -## Purpose -Can assemble given data into genomes and then validate quality +## Genome assembly + +This repository contains pipelines and scripts used to assemble, validate, and compare bovine genomes using ONT and HiFi data for three trios + - Original Braunvieh x Original Braunvieh + - Nellore x Brown Swiss + - gaur x Piedmontese + +For multiple current long read assemblers assemblers like hifiasm, canu, Shasta, Flye, etc. + + +## Pangenome analysis + +There are also multiple pipelines and scripts used to construct different pangenomes with minigraph and subsequent analysis of the SVs like repeatitive content and accuracy scores. + +## Citation + +Details on the results can be found in our [manuscript](https://www.biorxiv.org/content/10.1101/2021.11.02.466900v2), or the assemblies hosted [here](https://doi.org/10.5281/ZENODO.5906579). + +> **Structural variant-based pangenome construction has low sensitivity to variability of haplotype-resolved bovine assemblies** +> +> Alexander S. Leonard, Danang Crysnanto, Zih-Hua Fang, Michael P Heaton, Brian L. Vander Ley, Carolina Herrera, Heinrich Bollwein, Derek M. Bickhart, Kristen L. Kuhn, Timothy PL. Smith, Benjamin D. Rosen, Hubert Pausch +> +> bioRxiv 2021.11.02.466900; doi: https://doi.org/10.1101/2021.11.02.466900 + ## Usage -modify parameters in `snakepit/run_parameters.yaml` and run as `snakemake`. More details and linking to the [LSF](https://github.com/AnimalGenomicsETH/snakemake_lsf) profile coming soon. +Many of the parameters are tuned to run for our data and on the ETH Euler cluster, using for example a forked version of the LSF snakemake [profile](https://github.com/AnimalGenomicsETH/snakemake_lsf), so it may take some modifying to work smoothly in different contexts. Many tools are assumed to be available in $PATH, but all are freely available.