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Results: 1 to 20 of 90

1.

Whole exome capture in solution with 3 Gbp of data.

Bainbridge MN, Wang M, Burgess DL, Kovar C, Rodesch MJ, D'Ascenzo M, Kitzman J, Wu YQ, Newsham I, Richmond TA, Jeddeloh JA, Muzny D, Albert TJ, Gibbs RA.

Genome Biol. 2010;11(6):R62. doi: 10.1186/gb-2010-11-6-r62. Epub 2010 Jun 17.

PMID:
20565776
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Screening the human exome: a comparison of whole genome and whole transcriptome sequencing.

Cirulli ET, Singh A, Shianna KV, Ge D, Smith JP, Maia JM, Heinzen EL, Goedert JJ, Goldstein DB; Center for HIV/AIDS Vaccine Immunology (CHAVI).

Genome Biol. 2010;11(5):R57. doi: 10.1186/gb-2010-11-5-r57. Epub 2010 May 28.

PMID:
20598109
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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
4.

Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexing.

Ramos E, Levinson BT, Chasnoff S, Hughes A, Young AL, Thornton K, Li A, Vallania FL, Province M, Druley TE.

BMC Genomics. 2012 Dec 6;13:683. doi: 10.1186/1471-2164-13-683.

PMID:
23216810
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Targeted capture and massively parallel sequencing of 12 human exomes.

Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J.

Nature. 2009 Sep 10;461(7261):272-6. doi: 10.1038/nature08250. Epub 2009 Aug 16.

PMID:
19684571
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities.

Bainbridge MN, Wang M, Wu Y, Newsham I, Muzny DM, Jefferies JL, Albert TJ, Burgess DL, Gibbs RA.

Genome Biol. 2011 Jul 25;12(7):R68. doi: 10.1186/gb-2011-12-7-r68.

PMID:
21787409
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Comprehensive comparison of three commercial human whole-exome capture platforms.

Asan, Xu Y, Jiang H, Tyler-Smith C, Xue Y, Jiang T, Wang J, Wu M, Liu X, Tian G, Wang J, Wang J, Yang H, Zhang X.

Genome Biol. 2011 Sep 28;12(9):R95. doi: 10.1186/gb-2011-12-9-r95.

PMID:
21955857
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Targeted high throughput sequencing of a cancer-related exome subset by specific sequence capture with a fully automated microarray platform.

Summerer D, Schracke N, Wu H, Cheng Y, Bau S, Stähler CF, Stähler PF, Beier M.

Genomics. 2010 Apr;95(4):241-6. doi: 10.1016/j.ygeno.2010.01.006. Epub 2010 Feb 6.

PMID:
20138981
[PubMed - indexed for MEDLINE]
Free Article
9.

Multiplex amplification of large sets of human exons.

Porreca GJ, Zhang K, Li JB, Xie B, Austin D, Vassallo SL, LeProust EM, Peck BJ, Emig CJ, Dahl F, Gao Y, Church GM, Shendure J.

Nat Methods. 2007 Nov;4(11):931-6. Epub 2007 Oct 14.

PMID:
17934468
[PubMed - indexed for MEDLINE]
10.

The GENCODE exome: sequencing the complete human exome.

Coffey AJ, Kokocinski F, Calafato MS, Scott CE, Palta P, Drury E, Joyce CJ, Leproust EM, Harrow J, Hunt S, Lehesjoki AE, Turner DJ, Hubbard TJ, Palotie A.

Eur J Hum Genet. 2011 Jul;19(7):827-31. doi: 10.1038/ejhg.2011.28. Epub 2011 Mar 2.

PMID:
21364695
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Enrichment of sequencing targets from the human genome by solution hybridization.

Tewhey R, Nakano M, Wang X, Pabón-Peña C, Novak B, Giuffre A, Lin E, Happe S, Roberts DN, LeProust EM, Topol EJ, Harismendy O, Frazer KA.

Genome Biol. 2009;10(10):R116. doi: 10.1186/gb-2009-10-10-r116. Epub 2009 Oct 16.

PMID:
19835619
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Exome sequencing: capture and sequencing of all human coding regions for disease gene discovery.

Priya RR, Rajasimha HK, Brooks MJ, Swaroop A.

Methods Mol Biol. 2012;884:335-51. doi: 10.1007/978-1-61779-848-1_24.

PMID:
22688718
[PubMed - indexed for MEDLINE]
13.

Whole human exome capture for high-throughput sequencing.

Kim DW, Nam SH, Kim RN, Choi SH, Park HS.

Genome. 2010 Jul;53(7):568-74. doi: 10.1139/g10-025.

PMID:
20616878
[PubMed - indexed for MEDLINE]
14.

Efficient and cost effective population resequencing by pooling and in-solution hybridization.

Bansal V, Tewhey R, Leproust EM, Schork NJ.

PLoS One. 2011 Mar 30;6(3):e18353. doi: 10.1371/journal.pone.0018353.

PMID:
21479135
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

A comparative analysis of exome capture.

Parla JS, Iossifov I, Grabill I, Spector MS, Kramer M, McCombie WR.

Genome Biol. 2011 Sep 29;12(9):R97. doi: 10.1186/gb-2011-12-9-r97.

PMID:
21958622
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Exome sequencing of a multigenerational human pedigree.

Hedges DJ, Burges D, Powell E, Almonte C, Huang J, Young S, Boese B, Schmidt M, Pericak-Vance MA, Martin E, Zhang X, Harkins TT, Züchner S.

PLoS One. 2009 Dec 14;4(12):e8232. doi: 10.1371/journal.pone.0008232. Erratum in: PLoS One. 2009;4(12). doi: 10.1371/annotation/b0fe9dd5-16e1-4b50-b590-263518fbd5eb. Hedges, Dale [corrected to Hedges, Dale J].

PMID:
20011588
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese.

Yamaguchi T, Hosomichi K, Narita A, Shirota T, Tomoyasu Y, Maki K, Inoue I.

J Bone Miner Res. 2011 Jul;26(7):1655-61. doi: 10.1002/jbmr.385.

PMID:
21404329
[PubMed - indexed for MEDLINE]
18.

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing.

Gnirke A, Melnikov A, Maguire J, Rogov P, LeProust EM, Brockman W, Fennell T, Giannoukos G, Fisher S, Russ C, Gabriel S, Jaffe DB, Lander ES, Nusbaum C.

Nat Biotechnol. 2009 Feb;27(2):182-9. doi: 10.1038/nbt.1523. Epub 2009 Feb 1.

PMID:
19182786
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

The functional spectrum of low-frequency coding variation.

Marth GT, Yu F, Indap AR, Garimella K, Gravel S, Leong WF, Tyler-Smith C, Bainbridge M, Blackwell T, Zheng-Bradley X, Chen Y, Challis D, Clarke L, Ball EV, Cibulskis K, Cooper DN, Fulton B, Hartl C, Koboldt D, Muzny D, Smith R, Sougnez C, Stewart C, Ward A, Yu J, Xue Y, Altshuler D, Bustamante CD, Clark AG, Daly M, DePristo M, Flicek P, Gabriel S, Mardis E, Palotie A, Gibbs R; 1000 Genomes Project.

Genome Biol. 2011 Sep 14;12(9):R84. doi: 10.1186/gb-2011-12-9-r84.

PMID:
21917140
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.

Durocher F, Labrie Y, Soucy P, Sinilnikova O, Labuda D, Bessette P, Chiquette J, Laframboise R, Lépine J, Lespérance B, Ouellette G, Pichette R, Plante M, Tavtigian SV, Simard J.

BMC Cancer. 2006 Sep 29;6:230.

PMID:
17010193
[PubMed - indexed for MEDLINE]
Free PMC Article

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