The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 7, 2012, Pages 1523-1525

  Bamshad, Michael J ^a,b,c   Shendure, Jay A ^b   Valle, David ^d   Hamosh, Ada ^d   Lupski, James R ^e,f   Gibbs, Richard A ^e   Boerwinkle, Eric ^e,g   Lifton, Richard P ^h   Gerstein, Mark ^h   Gunel, Murat ^h   Mane, Shrikant ^h   Nickerson, Deborah A ^b  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c SEATTLE CHILDREN S HOSPITAL   (United States)

^d JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

^f TEXAS CHILDREN S HOSPITAL   (United States)

^g UNIVERSITY OF TEXAS   (United States)

^h YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Commentary; Exome sequencing; Mendelian

Indexed keywords

EXOME; EXOME SEQUENCING; GENE; GENE IDENTIFICATION; GENE SEQUENCE; HEALTH CARE COST; HEALTH CARE DELIVERY; HEALTH CARE FACILITY; HEALTH CARE PLANNING; LARGE SCALE PRODUCTION; MENDELIAN DISORDER; NATIONAL HEALTH ORGANIZATION; NOTE; ONLINE SYSTEM; PHENOTYPE; PRIORITY JOURNAL; RARE DISEASE; UNIVERSITY; WHOLE GENOME SEQUENCING;

ACADEMIES AND INSTITUTES; GENETIC DISEASES, INBORN; GENETICS, MEDICAL; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS;

EID: 84862683078     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35470     Document Type: Note

References (15)

1. Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J. 2011. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 12: 745- 755.
2. Biesecker LG. 2010. Exome sequencing makes medical genomics a reality. Nat Genet 42: 13- 14.
3. Bilgüvar K, Oztürk AK, Louvi A, Kwan KY, Choi M, Tatli B, Yalnizoǧlu D, Tüysüz B, Caǧlayan AO, Gökben S, et al. 2010. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 467: 207- 210.
4. Choate KA, Lu Y, Zhou J, Choi M, Elias PM, Farhi A, Nelson-Williams C, Crumrine D, Williams ML, Nopper AJ, et al. 2010. Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. Science 330: 94- 97.
5. Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloǧlu A, Ozen S, Sanjad S, et al. 2009. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci USA 106: 19096- 19101.
6. Choi M, Scholl UI, Yue P, Björklund P, Zhao B, Nelson-Williams C, Ji W, Cho Y, Patel A, Men CJ, et al. 2011. K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science 331: 768- 772.
7. Gilissen C, Hoischen A, Brunner HG, Veltman JA. 2011. Unlocking Mendelian disease using exome sequencing. Genome Biol 12: 228.
8. Gonzaga-Jauregui C, Lupski JR, Gibbs RA. 2012. Human genome sequencing in health and disease. Annu Rev Med 63: 35- 61.
9. Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, Turner J, Cannons JL, Bick D, Blakemore L, et al. 2011. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 365: 611- 619.
10. Lupski JR, Reid JG, Gonzaga-Jauregui C, Rio Deiros D, Chen DC, Nazareth L, Bainbridge M, Dinh H, Jing C, Wheeler DA, et al. 2010. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med 362: 1181- 1191.
11. Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, et al. 2009. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461: 272- 276.
12. Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, et al. 2010. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 42: 30- 35.
13. O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, et al. 2011. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 43: 585- 589.
14. Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, et al. 2010. Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. PLoS Genet 6: e1000991.
15. Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, del Rosario M, et al. 2010. A de novo paradigm for mental retardation. Nat Genet 42: 1109- 1112.