Kalbfleisch Theodore S, Rice Edward S, DePriest Michael S, Walenz Brian P, Hestand Matthew S, Vermeesch Joris R, O Connell Brendan L, Fiddes Ian T, Vershinina Alisa O, Saremi Nedda F, Petersen Jessica L, Finno Carrie J, Bellone Rebecca R, McCue Molly E, Brooks Samantha A, Bailey Ernest, Orlando Ludovic, Green Richard E, Miller Donald C, Antczak Douglas F, MacLeod James N
Department of Biochemistry and Molecular Genetics, School of Medicine, University of Louisville, Louisville, KY, 40292, USA.
Department of Biomolecular Engineering, UC Santa Cruz, Santa Cruz, CA, 95064, USA.
Commun Biol. 2018 Nov 16;1:197. doi: 10.1038/s42003-018-0199-z. eCollection 2018.
Recent advances in genomic sequencing technology and computational assembly methods have allowed scientists to improve reference genome assemblies in terms of contiguity and composition. EquCab2, a reference genome for the domestic horse, was released in 2007. Although of equal or better quality compared to other first-generation Sanger assemblies, it had many of the shortcomings common to them. In 2014, the equine genomics research community began a project to improve the reference sequence for the horse, building upon the solid foundation of EquCab2 and incorporating new short-read data, long-read data, and proximity ligation data. Here, we present EquCab3. The count of non-N bases in the incorporated chromosomes is improved from 2.33 Gb in EquCab2 to 2.41 Gb in EquCab3. Contiguity has also been improved nearly 40-fold with a contig N50 of 4.5 Mb and scaffold contiguity enhanced to where all but one of the 32 chromosomes is comprised of a single scaffold.
基因组测序技术和计算组装方法的最新进展使科学家能够在连续性和组成方面改进参考基因组组装。EquCab2是家马的参考基因组,于2007年发布。尽管与其他第一代桑格组装相比质量相当或更好,但它具有许多与之共有的缺点。2014年,马基因组学研究团队基于EquCab2的坚实基础,结合新的短读长数据、长读长数据和邻近连接数据,启动了一个改进马参考序列的项目。在此,我们展示EquCab3。合并染色体中非N碱基的数量从EquCab2中的2.33Gb提高到EquCab3中的2.41Gb。连续性也提高了近40倍,重叠群N50为4.5Mb,支架连续性增强到32条染色体中除一条外均由单个支架组成。