Pyrobayes:: an improved base caller for SNP discovery in pyrosequences

被引:137
作者
Quinlan, Aaron R. [1 ]
Stewart, Donald A. [1 ]
Stromberg, Michael P. [1 ]
Marth, Gabor T. [1 ]
机构
[1] Boston Coll, Dept Biol, Chestnut Hill, MA 02467 USA
关键词
D O I
10.1038/NMETH.1172
中图分类号
Q5 [生物化学];
学科分类号
071010 ; 081704 ;
摘要
Previously reported applications of the 454 Life Sciences pyrosequencing technology have relied on deep sequence coverage for accurate polymorphism discovery because of frequent insertion and deletion sequence errors. Here we report a new base calling program, Pyrobayes, for pyrosequencing reads. Pyrobayes permits accurate single-nucleotide polymorphism (SNP) calling in resequencing applications, even in shallow read coverage, primarily because it produces more confident base calls than the native base calling program.
引用
收藏
页码:179 / 181
页数:3
相关论文
共 10 条
  • [1] Base-calling of automated sequencer traces using phred.: II.: Error probabilities
    Ewing, B
    Green, P
    [J]. GENOME RESEARCH, 1998, 8 (03): : 186 - 194
  • [2] Base-calling of automated sequencer traces using phred.: I.: Accuracy assessment
    Ewing, B
    Hillier, L
    Wendl, MC
    Green, P
    [J]. GENOME RESEARCH, 1998, 8 (03): : 175 - 185
  • [3] A germline-specific class of small RNAs binds mammalian Piwi proteins
    Girard, Angelique
    Sachidanandam, Ravi
    Hannon, Gregory J.
    Carmell, Michelle A.
    [J]. NATURE, 2006, 442 (7099) : 199 - 202
  • [4] Single nucleotide polymorphism markers for genetic mapping in Drosophila melanogaster
    Hoskins, RA
    Phan, AC
    Naeemuddin, M
    Mapa, FA
    Ruddy, DA
    Ryan, JJ
    Young, LM
    Wells, T
    Kopczynski, C
    Ellis, MC
    [J]. GENOME RESEARCH, 2001, 11 (06) : 1100 - 1113
  • [5] LANDER E S, 1988, Genomics, V2, P231
  • [6] Genome sequencing in microfabricated high-density picolitre reactors
    Margulies, M
    Egholm, M
    Altman, WE
    Attiya, S
    Bader, JS
    Bemben, LA
    Berka, J
    Braverman, MS
    Chen, YJ
    Chen, ZT
    Dewell, SB
    Du, L
    Fierro, JM
    Gomes, XV
    Godwin, BC
    He, W
    Helgesen, S
    Ho, CH
    Irzyk, GP
    Jando, SC
    Alenquer, MLI
    Jarvie, TP
    Jirage, KB
    Kim, JB
    Knight, JR
    Lanza, JR
    Leamon, JH
    Lefkowitz, SM
    Lei, M
    Li, J
    Lohman, KL
    Lu, H
    Makhijani, VB
    McDade, KE
    McKenna, MP
    Myers, EW
    Nickerson, E
    Nobile, JR
    Plant, R
    Puc, BP
    Ronan, MT
    Roth, GT
    Sarkis, GJ
    Simons, JF
    Simpson, JW
    Srinivasan, M
    Tartaro, KR
    Tomasz, A
    Vogt, KA
    Volkmer, GA
    [J]. NATURE, 2005, 437 (7057) : 376 - 380
  • [7] 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
  • [8] Primer-site SNPs mask mutations
    Quinlan, Aaron R.
    Marth, Gabor T.
    [J]. NATURE METHODS, 2007, 4 (03) : 192 - 192
  • [9] Sensitive mutation detection in heterogeneous cancer specimens by massively parallel picoliter reactor sequencing
    Thomas, Roman K.
    Nickerson, Elizabeth
    Simons, Jan F.
    Janne, Pasi A.
    Tengs, Torstein
    Yuza, Yuki
    Garraway, Levi A.
    LaFramboise, Thomas
    Lee, Jeffrey C.
    Shah, Kinjal
    O'Neill, Keith
    Sasaki, Hidefumi
    Lindeman, Neal
    Wong, Kwok-Kin
    Borras, Ana M.
    Gutmann, Edward J.
    Dragnev, Konstantin H.
    DeBiasi, Ralph
    Chen, Tzu-Hsiu
    Glatt, Karen A.
    Greulich, Heidi
    Desany, Brian
    Lubeski, Christine K.
    Brockman, William
    Alvarez, Pablo
    Hutchison, Stephen K.
    Leamon, J. H.
    Ronan, Michael T.
    Turenchalk, Gregory S.
    Egholm, Michael
    Sellers, William R.
    Rothberg, Jonathan M.
    Meyerson, Matthew
    [J]. NATURE MEDICINE, 2006, 12 (07) : 852 - 855
  • [10] Comprehensive mutation identification in an evolved bacterial cooperator and its cheating ancestor
    Velicer, Gregory J.
    Raddatz, Guenter
    Keller, Heike
    Deiss, Silvia
    Lanz, Christa
    Dinkelacker, Iris
    Schuster, Stephan C.
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2006, 103 (21) : 8107 - 8112