Title
Eliminating heterozygosity from reads through coverage normalization
Abstract
Heterozygosity has long plagued genome assembly. A wealth of sophisticated algorithms and procedures have been introduced for their treatment in genome assembly. In this paper, we propose a method called Hank (Heterozygosity assimilation through normalized k-mers) for this purpose. The method eliminates heterozygosity from reads by modifying the k-mers in heterozygous regions to increase their coverages to the levels of those in homozygous regions. When evaluated on simulated Illumina data at levels of heterozygosity from 0.1% to 2.0%, Hank was able to remove 80~96% of the heterozygosity. We also examined the effects of the corrections on de novo genome assembly using SOAPdenovo2, ALLPATH-LG and Platanus. All three methods improved in performance using the treated k-mers (we do not include these assembly results in this manuscript due to space constraint).
Year
DOI
Venue
2016
10.1109/BIBM.2016.7822514
2016 IEEE International Conference on Bioinformatics and Biomedicine (BIBM)
Keywords
Field
DocType
heterozygosity,coverage normalization,sophisticated algorithms,Hank,normalized k-mers,heterozygous regions,de novo genome assembly,SOAPdenovo2,ALLPATH-LG,Platanus
Assimilation (phonology),Normalization (statistics),Biology,Genomics,Loss of heterozygosity,Whole genome sequencing,Bioinformatics,Genetics,Sequence assembly
Conference
ISSN
ISBN
Citations 
2156-1125
978-1-5090-1612-9
0
PageRank 
References 
Authors
0.34
11
4
Name
Order
Citations
PageRank
Zicheng Zhao111.42
Yen Kaow Ng2739.46
Xiaodong Fang300.34
Shuai Cheng Li418430.25