生物
基因组
遗传学
结构变异
基因分型
计算生物学
参考基因组
进化生物学
基因型
基因
作者
Jouni Sirén,Jean Monlong,Xian Chang,Adam M. Novak,Jordan M. Eizenga,Charles Markello,Jonas A. Sibbesen,Glenn Hickey,Pi-Chuan Chang,Andrew Carroll,Namrata Gupta,Stacey Gabriel,Thomas W. Blackwell,Aakrosh Ratan,Kent D. Taylor,Stephen S. Rich,Jerome I. Rotter,David Haussler,Erik Garrison,Benedict Paten
出处
期刊:Science
[American Association for the Advancement of Science (AAAS)]
日期:2021-12-16
卷期号:374 (6574)
被引量:194
标识
DOI:10.1126/science.abg8871
摘要
Giraffe pangenomes Genomes within a species often have a core, conserved component, as well as a variable set of genetic material among individuals or populations that is referred to as a “pangenome.” Inference of the relationships between pangenomes sequenced with short-read technology is often done computationally by mapping the sequences to a reference genome. The computational method affects genome assembly and comparisons, especially in cases of structural variants that are longer than an average sequenced region, for highly polymorphic loci, and for cross-species analyses. Siren et al . present a bioinformatic method called Giraffe, which improves mapping pangenomes in polymorphic regions of the genome containing single nucleotide polymorphisms and structural variants with standard computational resources, making large-scale genomic analyses more accessible. —LMZ
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