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Items: 1 to 20 of 21

1.

High-performance single-chip exon capture allows accurate whole exome sequencing using the Illumina Genome Analyzer.

Jiang T, Yang L, Jiang H, Tian G, Zhang X.

Sci China Life Sci. 2011 Oct;54(10):945-52. doi: 10.1007/s11427-011-4232-4. Epub 2011 Oct 29.

PMID:
22038007
2.

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE.

Nat Genet. 2011 Jun;43(6):585-9. doi: 10.1038/ng.835. Epub 2011 May 15. Erratum in: Nat Genet. 2012 Apr;44(4):471.

3.

Autism spectrum disorders are associated with an elevated autoantibody response to tissue transglutaminase-2.

Rosenspire A, Yoo W, Menard S, Torres AR.

Autism Res. 2011 Aug;4(4):242-9. doi: 10.1002/aur.194. Epub 2011 Apr 19.

PMID:
21506289
4.

DNA sequencing leads to genomics progress in China.

Wu J, Xiao J, Zhang R, Yu J.

Sci China Life Sci. 2011 Mar;54(3):290-2. doi: 10.1007/s11427-011-4148-z. Epub 2011 Mar 16. No abstract available.

PMID:
21416330
5.

A method based on local density and random walks for complexes detection in protein interaction networks.

Yu L, Gao L, Li K.

J Bioinform Comput Biol. 2010 Dec;8 Suppl 1:47-62.

PMID:
21155019
6.

Analysis of genetic inheritance in a family quartet by whole-genome sequencing.

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.

Science. 2010 Apr 30;328(5978):636-9. doi: 10.1126/science.1186802. Epub 2010 Mar 10.

7.

Exome sequencing identifies the cause of a mendelian disorder.

Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ.

Nat Genet. 2010 Jan;42(1):30-5. doi: 10.1038/ng.499. Epub 2009 Nov 13.

8.

Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.

Goriely A, Hansen RM, Taylor IB, Olesen IA, Jacobsen GK, McGowan SJ, Pfeifer SP, McVean GA, Rajpert-De Meyts E, Wilkie AO.

Nat Genet. 2009 Nov;41(11):1247-52. doi: 10.1038/ng.470. Epub 2009 Oct 25.

9.

Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins.

Yandell M, Moore B, Salas F, Mungall C, MacBride A, White C, Reese MG.

PLoS Comput Biol. 2008 Nov;4(11):e1000218. doi: 10.1371/journal.pcbi.1000218. Epub 2008 Nov 7.

10.

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.

Robinson PN, Köhler S, Bauer S, Seelow D, Horn D, Mundlos S.

Am J Hum Genet. 2008 Nov;83(5):610-5. doi: 10.1016/j.ajhg.2008.09.017. Epub 2008 Oct 23.

11.

Networking for rare diseases: a necessity for Europe.

Aymé S, Schmidtke J.

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2007 Dec;50(12):1477-83. Review.

PMID:
18026888
12.

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE.

Hum Mutat. 2008 Jan;29(1):6-13.

PMID:
18000842
13.

The NCBI dbGaP database of genotypes and phenotypes.

Mailman MD, Feolo M, Jin Y, Kimura M, Tryka K, Bagoutdinov R, Hao L, Kiang A, Paschall J, Phan L, Popova N, Pretel S, Ziyabari L, Lee M, Shao Y, Wang ZY, Sirotkin K, Ward M, Kholodov M, Zbicz K, Beck J, Kimelman M, Shevelev S, Preuss D, Yaschenko E, Graeff A, Ostell J, Sherry ST.

Nat Genet. 2007 Oct;39(10):1181-6.

14.

The human disease network.

Goh KI, Cusick ME, Valle D, Childs B, Vidal M, Barabási AL.

Proc Natl Acad Sci U S A. 2007 May 22;104(21):8685-90. Epub 2007 May 14.

15.

Analysis of protein sequence and interaction data for candidate disease gene prediction.

George RA, Liu JY, Feng LL, Bryson-Richardson RJ, Fatkin D, Wouters MA.

Nucleic Acids Res. 2006;34(19):e130. Epub 2006 Oct 4.

16.

Exploiting indirect neighbours and topological weight to predict protein function from protein-protein interactions.

Chua HN, Sung WK, Wong L.

Bioinformatics. 2006 Jul 1;22(13):1623-30. Epub 2006 Apr 21. Erratum in: Bioinformatics. 2008 Feb 1;24(3):452.

PMID:
16632496
17.

Probabilistic model of the human protein-protein interaction network.

Rhodes DR, Tomlins SA, Varambally S, Mahavisno V, Barrette T, Kalyana-Sundaram S, Ghosh D, Pandey A, Chinnaiyan AM.

Nat Biotechnol. 2005 Aug;23(8):951-9.

PMID:
16082366
18.

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.

Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA.

Nucleic Acids Res. 2005 Jan 1;33(Database issue):D514-7.

19.

BLAT--the BLAST-like alignment tool.

Kent WJ.

Genome Res. 2002 Apr;12(4):656-64.

20.

Gene ontology: tool for the unification of biology. The Gene Ontology Consortium.

Ashburner M, Ball CA, Blake JA, Botstein D, Butler H, Cherry JM, Davis AP, Dolinski K, Dwight SS, Eppig JT, Harris MA, Hill DP, Issel-Tarver L, Kasarskis A, Lewis S, Matese JC, Richardson JE, Ringwald M, Rubin GM, Sherlock G.

Nat Genet. 2000 May;25(1):25-9. No abstract available.

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