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Results: 1 to 20 of 182

1.

Computational and statistical approaches to analyzing variants identified by exome sequencing.

Stitziel NO, Kiezun A, Sunyaev S.

Genome Biol. 2011 Sep 14;12(9):227. doi: 10.1186/gb-2011-12-9-227. Review.

PMID:
21920052
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders.

Rabbani B, Mahdieh N, Hosomichi K, Nakaoka H, Inoue I.

J Hum Genet. 2012 Oct;57(10):621-32. doi: 10.1038/jhg.2012.91. Epub 2012 Jul 26. Review.

PMID:
22832387
[PubMed - indexed for MEDLINE]
3.

Exome sequencing: the expert view.

Biesecker LG, Shianna KV, Mullikin JC.

Genome Biol. 2011 Sep 14;12(9):128. doi: 10.1186/gb-2011-12-9-128.

PMID:
21920051
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

The exome factor.

Stower H.

Genome Biol. 2011 Sep 14;12(9):407. doi: 10.1186/gb-2011-12-9-407.

PMID:
21920053
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Next-generation human genetics.

Shendure J.

Genome Biol. 2011 Sep 14;12(9):408. doi: 10.1186/gb-2011-12-9-408.

PMID:
21920048
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

What can genome-wide association studies tell us about the genetics of common disease?

Iles MM.

PLoS Genet. 2008 Feb;4(2):e33. doi: 10.1371/journal.pgen.0040033.

PMID:
18454206
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Unlocking Mendelian disease using exome sequencing.

Gilissen C, Hoischen A, Brunner HG, Veltman JA.

Genome Biol. 2011 Sep 14;12(9):228. doi: 10.1186/gb-2011-12-9-228. Review.

PMID:
21920049
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Identity by descent between distant relatives: detection and applications.

Browning SR, Browning BL.

Annu Rev Genet. 2012;46:617-33. doi: 10.1146/annurev-genet-110711-155534. Epub 2012 Sep 17. Review.

PMID:
22994355
[PubMed - indexed for MEDLINE]
9.

New approaches to molecular diagnosis.

Korf BR, Rehm HL.

JAMA. 2013 Apr 10;309(14):1511-21. doi: 10.1001/jama.2013.3239.

PMID:
23571590
[PubMed - indexed for MEDLINE]
10.

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data.

Cooper GM, Shendure J.

Nat Rev Genet. 2011 Aug 18;12(9):628-40. doi: 10.1038/nrg3046. Review.

PMID:
21850043
[PubMed - indexed for MEDLINE]
11.

Exome-assistant: a rapid and easy detection of disease-related genes and genetic variations from exome sequencing.

Liu Q, Shen E, Min Q, Li X, Wang X, Li X, Sun ZS, Wu J.

BMC Genomics. 2012 Dec 11;13:692. doi: 10.1186/1471-2164-13-692.

PMID:
23231371
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing.

Tariq M, Belmont JW, Lalani S, Smolarek T, Ware SM.

Genome Biol. 2011 Sep 21;12(9):R91. doi: 10.1186/gb-2011-12-9-r91.

PMID:
21936905
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Molecular genetic studies of complex phenotypes.

Marian AJ.

Transl Res. 2012 Feb;159(2):64-79. doi: 10.1016/j.trsl.2011.08.001. Epub 2011 Aug 31. Review.

PMID:
22243791
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Comparison of solution-based exome capture methods for next generation sequencing.

Sulonen AM, Ellonen P, Almusa H, Lepistö M, Eldfors S, Hannula S, Miettinen T, Tyynismaa H, Salo P, Heckman C, Joensuu H, Raivio T, Suomalainen A, Saarela J.

Genome Biol. 2011 Sep 28;12(9):R94. doi: 10.1186/gb-2011-12-9-r94.

PMID:
21955854
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.

Smith KR, Bromhead CJ, Hildebrand MS, Shearer AE, Lockhart PJ, Najmabadi H, Leventer RJ, McGillivray G, Amor DJ, Smith RJ, Bahlo M.

Genome Biol. 2011 Sep 14;12(9):R85. doi: 10.1186/gb-2011-12-9-r85.

PMID:
21917141
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Autozygosity mapping with exome sequence data.

Carr IM, Bhaskar S, O'Sullivan J, Aldahmesh MA, Shamseldin HE, Markham AF, Bonthron DT, Black G, Alkuraya FS.

Hum Mutat. 2013 Jan;34(1):50-6. doi: 10.1002/humu.22220. Epub 2012 Oct 22.

PMID:
23090942
[PubMed - indexed for MEDLINE]
17.

Next generation sequencing: the technology we need in pediatric laboratories?

Couderc R, Jonard L, Louha M.

Clin Biochem. 2011 May;44(7):514-5. doi: 10.1016/j.clinbiochem.2011.02.030. No abstract available.

PMID:
22036354
[PubMed - indexed for MEDLINE]
18.

A map of human genome variation from population-scale sequencing.

1000 Genomes Project Consortium, Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA.

Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534. Erratum in: Nature. 2011 May 26;473(7348):544. Xue, Yali [added]; Cartwright, Reed A [added]; Altshuler, David L [corrected to Altshuler, David]; Kebbel, Andrew [corrected to Keebler, Jonathan]; Koko-Gonzales, Paula [corrected to Kokko-Gonzales, Paula]; Nickerson, Debbie A [corrected to Nickerson, Deborah A].

PMID:
20981092
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

The complete genome of an individual by massively parallel DNA sequencing.

Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, He W, Chen YJ, Makhijani V, Roth GT, Gomes X, Tartaro K, Niazi F, Turcotte CL, Irzyk GP, Lupski JR, Chinault C, Song XZ, Liu Y, Yuan Y, Nazareth L, Qin X, Muzny DM, Margulies M, Weinstock GM, Gibbs RA, Rothberg JM.

Nature. 2008 Apr 17;452(7189):872-6. doi: 10.1038/nature06884.

PMID:
18421352
[PubMed - indexed for MEDLINE]
20.

Improved exome prioritization of disease genes through cross-species phenotype comparison.

Robinson PN, Köhler S, Oellrich A; Sanger Mouse Genetics Project, Wang K, Mungall CJ, Lewis SE, Washington N, Bauer S, Seelow D, Krawitz P, Gilissen C, Haendel M, Smedley D.

Genome Res. 2014 Feb;24(2):340-8. doi: 10.1101/gr.160325.113. Epub 2013 Oct 25.

PMID:
24162188
[PubMed - indexed for MEDLINE]
Free PMC Article

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