Comprehensive variation discovery and recovery of missing sequence in the pig genome using multiple de novo assemblies

Genome Research
Mingzhou LiXuewei Li

Abstract

Uncovering genetic variation through resequencing is limited by the fact that only sequences with similarity to the reference genome are examined. Reference genomes are often incomplete and cannot represent the full range of genetic diversity as a result of geographical divergence and independent demographic events. To more comprehensively characterize genetic variation of pigs (Sus scrofa), we generated de novo assemblies of nine geographically and phenotypically representative pigs from Eurasia. By comparing them to the reference pig assembly, we uncovered a substantial number of novel SNPs and structural variants, as well as 137.02-Mb sequences harboring 1737 protein-coding genes that were absent in the reference assembly, revealing variants left by selection. Our results illustrate the power of whole-genome de novo sequencing relative to resequencing and provide valuable genetic resources that enable effective use of pigs in both agricultural production and biomedical research.

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Citations

Jul 11, 2019·Science China. Life Sciences·Xiaomeng TianYu Jiang
May 3, 2019·Current Developments in Nutrition·Maura E WalkerAlice H Lichtenstein
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May 12, 2021·Proceedings of the National Academy of Sciences of the United States of America·Danang CrysnantoHubert Pausch
May 18, 2021·Frontiers in Genetics·Fergal J MartinPaul Flicek

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