作者
Jade P Vinson, David B Jaffe, Keith O'Neill, Elinor K Karlsson, Nicole Stange-Thomann, Scott Anderson, Jill P Mesirov, Nori Satoh, Yutaka Satou, Chad Nusbaum, Bruce Birren, James E Galagan, Eric S Lander
发表日期
2005/8/1
期刊
Genome research
卷号
15
期号
8
页码范围
1127-1135
出版商
Cold Spring Harbor Lab
简介
Whole-genome assembly is now used routinely to obtain high-quality draft sequence for the genomes of species with low levels of polymorphism. However, genome assembly remains extremely challenging for highly polymorphic species. The difficulty arises because two divergent haplotypes are sequenced together, making it difficult to distinguish alleles at the same locus from paralogs at different loci. We present here a method for assembling highly polymorphic diploid genomes that involves assembling the two haplotypes separately and then merging them to obtain a reference sequence. Our method was developed to assemble the genome of the sea squirt Ciona savignyi, which was sequenced to a depth of 12.7× from a single wild individual. By comparing finished clones of the two haplotypes we determined that the sequenced individual had an extremely high heterozygosity rate, averaging 4.6% with …
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