Whole genome detection of sequences of six horses from diverse breeds.

Completed in 2009, the reference genome assembly of the domesticated horse (EquCab 2.0) produced the majority of publically available annotations of genetic variations in this species. Following that effort, a few other projects that focused at variant discovery of a particular breed or two. In this project we aim to identify and annotate single nucleotide polymorphisms (SNPs), insertions and deletions (INDELs), copy number variations (CNVs) and structural variations (SVs) in the genomes six horses of diverse genetic background using next generation sequencing.

完成于2009年的家马参考基因组组装版本EquCab 2.0，构建了该物种目前绝大多数公开可用的遗传变异注释集。在此项工作之后，另有少量研究聚焦于单个或少数马品种的变异发掘工作。本研究旨在借助下一代测序技术，对6匹遗传背景各异的家马基因组中的单核苷酸多态性（single nucleotide polymorphisms, SNPs）、插入缺失（insertions and deletions, INDELs）、拷贝数变异（copy number variations, CNVs）以及结构变异（structural variations, SVs）进行识别与注释。