A population model for genotyping indels from next-generation sequence data

作者：Shao, Haojing; Bellos, Evangelos; Yin, Hanjiudai; Liu, Xiao; Zou, Jing; Li, Yingrui; Wang, Jun^*; Coin, Lachlan J. M.

来源：Nucleic Acids Research, 2013, 41(3): e46.

DOI：10.1093/nar/gks1143

Insertion and deletion polymorphisms (indels) are an important source of genomic variation in plant and animal genomes, but accurate genotyping from low-coverage and exome next-generation sequence data remains challenging. We introduce an efficient population clustering algorithm for diploids and polyploids which was tested on a dataset of 2000 exomes. Compared with existing methods, we report a 4-fold reduction in overall indel genotype error rates with a 9-fold reduction in low coverage regions.

• 出版日期2013-2
• 单位深圳华大生命科学研究院