A new era in the discovery of de novomutations underlying human genetic disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Drug Discovery,Genetics,Molecular Biology,Molecular Medicine
Link
http://link.springer.com/content/pdf/10.1186/1479-7364-6-27.pdf
Reference26 articles.
1. Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ: Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science. 2010, 328: 636-639. 10.1126/science.1186802.
2. Conrad DF, Keebler JE, DePristo MA, Lindsay SJ, Zhang Y, Casals F, Idaghdour Y, Hartl CL, Torroja C, Garimella KV, Zilversmit M, Cartwright R, Rouleau GA, Daly M, Stone EA, Hurles ME, Awadalla P, Genomes P: Variation in genome-wide mutation rates within and between human families. Nat Genet. 2011, 43: 712-714. 10.1038/ng.862.
3. Kong A, Frigge ML, Masson G, Besenbacher S, Sulem P, Magnusson G, Gudjonsson SA, Sigurdsson A, Jonasdottir A, Jonasdottir A, Wong WS, Sigurdsson G, Walters GB, Steinberg S, Helgason H, Thorleifsson G, Gudbjartsson DF, Helgason A, Magnusson OT, Thorsteinsdottir U, Stefansson K: Rate of de novo mutations and the importance of father's age to disease risk. Nature. 2012, 488: 471-475. 10.1038/nature11396.
4. Xu B, Roos JL, Levy S, van Rensburg EJ, Gogos JA, Karayiorgou M: Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet. 2008, 40: 880-885. 10.1038/ng.162.
5. Rees E, Moskvina V, Owen MJ, O'Donovan MC, Kirov G: De novo rates and selection of schizophrenia-associated copy number variants. Biol Psychiatry. 2011, 70: 1109-1114. 10.1016/j.biopsych.2011.07.011.
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