A Bos taurus sequencing methods benchmark for assembly, haplotyping, and variant calling

用于组装、单倍型分析和变异检测的牛(Bos taurus)测序方法基准测试

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作者:Camille Eché ,Carole Iampietro ,Clément Birbes ,Andreea Dréau ,Claire Kuchly ,Arnaud Di Franco ,Christophe Klopp ,Thomas Faraut ,Sarah Djebali ,Adrien Castinel ,Matthias Zytnicki ,Erwan Denis ,Mekki Boussaha ,Cécile Grohs ,Didier Boichard ,Christine Gaspin ,Denis Milan ,Cécile Donnadieu

Abstract

Inspired by the production of reference data sets in the Genome in a Bottle project, we sequenced one Charolais heifer with different technologies: Illumina paired-end, Oxford Nanopore, Pacific Biosciences (HiFi and CLR), 10X Genomics linked-reads, and Hi-C. In order to generate haplotypic assemblies, we also sequenced both parents with short reads. From these data, we built two haplotyped trio high quality reference genomes and a consensus assembly, using up-to-date software packages. The assemblies obtained using PacBio HiFi reaches a size of 3.2 Gb, which is significantly larger than the 2.7 Gb ARS-UCD1.2 reference. The BUSCO score of the consensus assembly reaches a completeness of 95.8%, among highly conserved mammal genes. We also identified 35,866 structural variants larger than 50 base pairs. This assembly is a contribution to the bovine pangenome for the "Charolais" breed. These datasets will prove to be useful resources enabling the community to gain additional insight on sequencing technologies for applications such as SNP, indel or structural variant calling, and de novo assembly.

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