作者
Hélène Lopez-Maestre, Lilia Brinza, Camille Marchet, Janice Kielbassa, Sylvère Bastien, Mathilde Boutigny, David Monnin, Adil El Filali, Claudia Marcia Carareto, Cristina Vieira, Franck Picard, Natacha Kremer, Fabrice Vavre, Marie-France Sagot, Vincent Lacroix
发表日期
2016/11/2
期刊
Nucleic Acids Research
卷号
44
期号
19
页码范围
e148-e148
出版商
Oxford University Press
简介
SNPs (Single Nucleotide Polymorphisms) are genetic markers whose precise identification is a prerequisite for association studies. Methods to identify them are currently well developed for model species, but rely on the availability of a (good) reference genome, and therefore cannot be applied to non-model species. They are also mostly tailored for whole genome (re-)sequencing experiments, whereas in many cases, transcriptome sequencing can be used as a cheaper alternative which already enables to identify SNPs located in transcribed regions. In this paper, we propose a method that identifies, quantifies and annotates SNPs without any reference genome, using RNA-seq data only. Individuals can be pooled prior to sequencing, if not enough material is available from one individual. Using pooled human RNA-seq data, we clarify the precision and recall of our method and discuss them with respect to …
引用总数
20162017201820192020202120222023202441216166181382