Redundancy based detection of sequence polymorphisms in expressed sequence tag data using autoSNP

被引:103
作者
Barker, G
Batley, J
O'Sullivan, H
Edwards, KJ
Edwards, D [1 ]
机构
[1] La Trobe Univ, Agr Victoria Plant Biotechnol Ctr, Bundoora, Vic 3086, Australia
[2] Inst Arable Crop Res, Bristol BS41 9AF, Avon, England
[3] Univ Bristol, Sch Biol Sci, Bristol BS8 1UG, Avon, England
基金
英国生物技术与生命科学研究理事会;
关键词
D O I
10.1093/bioinformatics/btf881
中图分类号
Q5 [生物化学];
学科分类号
071010 ; 081704 ;
摘要
AutoSNP is a program to detect single nucleotide polymorphisms (SNPs) and insertion/deletion polymorphisms (indels) in expressed sequence tag (EST) data. The program uses d2cluster and cap3 to cluster and align EST sequences, and uses redundancy to differentiate between candidate SNPs and sequence errors. Candidate polymorphisms are identified as occurring in multiple reads within an alignment. For each candidate SNP, two measures of confidence are calculated, the redundancy of the polymorphism at a SNP locus and the co segregation of the candidate SNP with other SNPs in the alignment.
引用
收藏
页码:421 / 422
页数:2
相关论文
共 9 条
  • [1] [Anonymous], METHOD ENZYMOL
  • [2] d2_cluster: A validated method for clustering EST and full-length cDNA sequences
    Burke, J
    Davison, D
    Hide, W
    [J]. GENOME RESEARCH, 1999, 9 (11) : 1135 - 1142
  • [3] Identification of candidate coding region single nucleotide polymorphisms in 165 human genes using assembled expressed sequence tags
    Garg, K
    Green, P
    Nickerson, DA
    [J]. GENOME RESEARCH, 1999, 9 (11) : 1087 - 1092
  • [4] CAP3: A DNA sequence assembly program
    Huang, XQ
    Madan, A
    [J]. GENOME RESEARCH, 1999, 9 (09) : 868 - 877
  • [5] COMPARATIVE-ANALYSIS OF HUMAN DNA VARIATIONS BY FLUORESCENCE-BASED SEQUENCING OF PCR PRODUCTS
    KWOK, PY
    CARLSON, C
    YAGER, TD
    ANKENER, W
    NICKERSON, DA
    [J]. GENOMICS, 1994, 23 (01) : 138 - 144
  • [6] A general approach to single-nucleotide polymorphism discovery
    Marth, GT
    Korf, I
    Yandell, MD
    Yeh, RT
    Gu, ZJ
    Zakeri, H
    Stitziel, NO
    Hillier, L
    Kwok, PY
    Gish, WR
    [J]. NATURE GENETICS, 1999, 23 (04) : 452 - 456
  • [7] Applications of single nucleotide polymorphisms in crop genetics
    Rafalski, A
    [J]. CURRENT OPINION IN PLANT BIOLOGY, 2002, 5 (02) : 94 - 100
  • [8] Accessing genetic variation:: Genotyping single nucleotide polymorphisms
    Syvänen, AC
    [J]. NATURE REVIEWS GENETICS, 2001, 2 (12) : 930 - 942
  • [9] Overlapping genomic sequences: A treasure trove of single-nucleotide polymorphisms
    Taillon-Miller, P
    Gu, ZJ
    Li, Q
    Hillier, L
    Kwok, PY
    [J]. GENOME RESEARCH, 1998, 8 (07): : 748 - 754