Next-generation sequencing approaches for genetic mapping of complex diseases

被引:13
作者
Casals, Ferran [1 ,2 ]
Idaghdour, Youssef [1 ,2 ]
Hussin, Julie [1 ,3 ]
Awadalla, Philip [1 ,2 ]
机构
[1] Univ Montreal, Ctr Rech, Ctr Hosp Univ St Justine, Montreal, PQ, Canada
[2] Univ Montreal, Dept Pediat, Fac Med, Montreal, PQ H3C 3J7, Canada
[3] Univ Montreal, Dept Biochim, Fac Med, Montreal, PQ H3C 3J7, Canada
关键词
Next-generation sequencing; Complex disease; Genomics; GENOME-WIDE ASSOCIATION; SINGLE-NUCLEOTIDE POLYMORPHISMS; AUTISM SPECTRUM DISORDERS; QUANTITATIVE-TRAIT LOCI; DE-NOVO MUTATIONS; MULTIPLE-SCLEROSIS; RARE VARIANTS; HIGH-THROUGHPUT; STRUCTURAL VARIATION; GENOTYPE IMPUTATION;
D O I
10.1016/j.jneuroim.2011.12.017
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
The advent of next generation sequencing technologies has opened new possibilities in the analysis of human disease. In this review we present the main next-generation sequencing technologies, with their major contributions and possible applications to the study of the genetic etiology of complex diseases. (C) 2011 Elsevier B.V. All rights reserved.
引用
收藏
页码:10 / 22
页数:13
相关论文
共 131 条
  • [81] Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes
    Nejentsev, Sergey
    Walker, Neil
    Riches, David
    Egholm, Michael
    Todd, John A.
    [J]. SCIENCE, 2009, 324 (5925) : 387 - 389
  • [82] Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants
    Newport, Melanie
    Sirugo, Giorgio
    Lyons, Emily
    Vannberg, Fredrik
    Hill, Adrian V. S.
    Bradbury, Linda A.
    Farrar, Claire
    Pointon, Jennifer J.
    Wordsworth, Paul
    Brown, Matthew A.
    Franklyn, Jayne A.
    Heward, Joanne M.
    Simmonds, Matthew J.
    Gough, Stephen C. L.
    Seal, Sheila
    Stratton, Michael R.
    Rahman, Nazneen
    Ban, Maria
    Goris, An
    Sawcer, Stephen J.
    Compston, Alastair
    Conway, David
    Jallow, Muminatou
    Newport, Melanie
    Sirugo, Giorgio
    Rockett, Kirk A.
    Kwiatkowski, Dominic P.
    Bumpstead, Suzannah J.
    Chaney, Amy
    Downes, Kate
    Ghori, Mohammed J. R.
    Gwilliam, Rhian
    Hunt, Sarah E.
    Inouye, Michael
    Keniry, Andrew
    King, Emma
    McGinnis, Ralph
    Potter, Simon
    Ravindrarajah, Rathi
    Whittaker, Pamela
    Widden, Claire
    Withers, David
    Deloukas, Panos
    Leung, Hin-Tak
    Nutland, Sarah
    Stevens, Helen E.
    Walker, Neil M.
    Todd, John A.
    Easton, Doug
    Clayton, David G.
    [J]. NATURE GENETICS, 2007, 39 (11) : 1329 - 1337
  • [83] SIFT: predicting amino acid changes that affect protein function
    Ng, PC
    Henikoff, S
    [J]. NUCLEIC ACIDS RESEARCH, 2003, 31 (13) : 3812 - 3814
  • [84] Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
    Ng, Sarah B.
    Bigham, Abigail W.
    Buckingham, Kati J.
    Hannibal, Mark C.
    McMillin, Margaret J.
    Gildersleeve, Heidi I.
    Beck, Anita E.
    Tabor, Holly K.
    Cooper, Gregory M.
    Mefford, Heather C.
    Lee, Choli
    Turner, Emily H.
    Smith, Joshua D.
    Rieder, Mark J.
    Yoshiura, Koh-ichiro
    Matsumoto, Naomichi
    Ohta, Tohru
    Niikawa, Norio
    Nickerson, Deborah A.
    Bamshad, Michael J.
    Shendure, Jay
    [J]. NATURE GENETICS, 2010, 42 (09) : 790 - U85
  • [85] Exome sequencing identifies the cause of a mendelian disorder
    Ng, Sarah B.
    Buckingham, Kati J.
    Lee, Choli
    Bigham, Abigail W.
    Tabor, Holly K.
    Dent, Karin M.
    Huff, Chad D.
    Shannon, Paul T.
    Jabs, Ethylin Wang
    Nickerson, Deborah A.
    Shendure, Jay
    Bamshad, Michael J.
    [J]. NATURE GENETICS, 2010, 42 (01) : 30 - U41
  • [86] Targeted capture and massively parallel sequencing of 12 human exomes
    Ng, Sarah B.
    Turner, Emily H.
    Robertson, Peggy D.
    Flygare, Steven D.
    Bigham, Abigail W.
    Lee, Choli
    Shaffer, Tristan
    Wong, Michelle
    Bhattacharjee, Arindam
    Eichler, Evan E.
    Bamshad, Michael
    Nickerson, Deborah A.
    Shendure, Jay
    [J]. NATURE, 2009, 461 (7261) : 272 - U153
  • [87] Genotype and SNP calling from next-generation sequencing data
    Nielsen, Rasmus
    Paul, Joshua S.
    Albrechtsen, Anders
    Song, Yun S.
    [J]. NATURE REVIEWS GENETICS, 2011, 12 (06) : 443 - 451
  • [88] Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy
    Nikopoulos, Konstantinos
    Gilissen, Christian
    Hoischen, Alexander
    van Nouhuys, C. Erik
    Boonstra, F. Nienke
    Blokland, Ellen A. W.
    Arts, Peer
    Wieskamp, Nienke
    Strom, Tim M.
    Ayuso, Carmen
    Tilanus, Mauk A. D.
    Bouwhuis, Sanne
    Mukhopadhyay, Arijit
    Scheffer, Hans
    Hoefsloot, Lies H.
    Veltman, Joris A.
    Cremers, Frans P. M.
    Collin, Rob W. J.
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 86 (02) : 240 - 247
  • [89] Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
    O'Roak, Brian J.
    Deriziotis, Pelagia
    Lee, Choli
    Vives, Laura
    Schwartz, Jerrod J.
    Girirajan, Santhosh
    Karakoc, Emre
    MacKenzie, Alexandra P.
    Ng, Sarah B.
    Baker, Carl
    Rieder, Mark J.
    Nickerson, Deborah A.
    Bernier, Raphael
    Fisher, Simon E.
    Shendure, Jay
    Eichler, Evan E.
    [J]. NATURE GENETICS, 2011, 43 (06) : 585 - U125
  • [90] Microarray-based genomic selection for high-throughput resequencing
    Okou, David T.
    Steinberg, Karyn Meltz
    Middle, Christina
    Cutler, David J.
    Albert, Thomas J.
    Zwick, Michael E.
    [J]. NATURE METHODS, 2007, 4 (11) : 907 - 909