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Results: 1 to 20 of 57

1.

Improved variant calling accuracy by merging replicates in whole-exome sequencing studies.

Zhang Y, Li B, Li C, Cai Q, Zheng W, Long J.

Biomed Res Int. 2014;2014:319534. doi: 10.1155/2014/319534. Epub 2014 Aug 4.

PMID:
25162009
[PubMed - in process]
Free PMC Article
2.

Next generation sequencing technologies for next generation plant breeding.

Ray S, Satya P.

Front Plant Sci. 2014 Jul 30;5:367. doi: 10.3389/fpls.2014.00367. eCollection 2014. No abstract available.

PMID:
25126091
[PubMed]
Free PMC Article
3.

Exome sequencing identifies DLG1 as a novel gene for potential susceptibility to Crohn's disease in a Chinese family study.

Xu S, Zhou F, Tao J, Song L, Ng SC, Wang X, Chen L, Yi F, Ran Z, Zhou R, Xia B.

PLoS One. 2014 Jun 17;9(6):e99807. doi: 10.1371/journal.pone.0099807. eCollection 2014.

PMID:
24937328
[PubMed - in process]
Free PMC Article
4.

Whole-exome sequencing for the identification of susceptibility genes of Kashin-Beck disease.

Yang Z, Xu Y, Luo H, Ma X, Wang Q, Wang Y, Deng W, Jiang T, Sun G, He T, Hu J, Li Y, Wang J, Li T, Hu X.

PLoS One. 2014 Apr 28;9(4):e92298. doi: 10.1371/journal.pone.0092298. eCollection 2014.

PMID:
24776925
[PubMed - in process]
Free PMC Article
5.

Exome capture from saliva produces high quality genomic and metagenomic data.

Kidd JM, Sharpton TJ, Bobo D, Norman PJ, Martin AR, Carpenter ML, Sikora M, Gignoux CR, Nemat-Gorgani N, Adams A, Guadalupe M, Guo X, Feng Q, Li Y, Liu X, Parham P, Hoal EG, Feldman MW, Pollard KS, Wall JD, Bustamante CD, Henn BM.

BMC Genomics. 2014 Apr 4;15:262. doi: 10.1186/1471-2164-15-262.

PMID:
24708091
[PubMed - in process]
Free PMC Article
6.

Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).

Mahmood OA, Jiang XM.

Mol Med Rep. 2014 May;9(5):1515-32. doi: 10.3892/mmr.2014.2048. Epub 2014 Mar 13.

PMID:
24626787
[PubMed - in process]
Free PMC Article
7.

Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome.

Katagiri S, Yoshitake K, Akahori M, Hayashi T, Furuno M, Nishino J, Ikeo K, Tsuneoka H, Iwata T.

Mol Vis. 2013 Nov 24;19:2393-406. eCollection 2013.

PMID:
24319333
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing.

Gao X, Zhu QY, Song YS, Wang GJ, Yuan YY, Xin F, Huang SS, Kang DY, Han MY, Guan LP, Zhang JG, Dai P.

J Transl Med. 2013 Nov 9;11:284. doi: 10.1186/1479-5876-11-284.

PMID:
24206587
[PubMed - in process]
Free PMC Article
9.

EXCAVATOR: detecting copy number variants from whole-exome sequencing data.

Magi A, Tattini L, Cifola I, D'Aurizio R, Benelli M, Mangano E, Battaglia C, Bonora E, Kurg A, Seri M, Magini P, Giusti B, Romeo G, Pippucci T, De Bellis G, Abbate R, Gensini GF.

Genome Biol. 2013;14(10):R120.

PMID:
24172663
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

WEP: a high-performance analysis pipeline for whole-exome data.

D'Antonio M, D'Onorio De Meo P, Paoletti D, Elmi B, Pallocca M, Sanna N, Picardi E, Pesole G, Castrignanò T.

BMC Bioinformatics. 2013;14 Suppl 7:S11. doi: 10.1186/1471-2105-14-S7-S11. Epub 2013 Apr 22.

PMID:
23815231
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Genome-wide patterns of genetic variation in two domestic chickens.

Fan WL, Ng CS, Chen CF, Lu MY, Chen YH, Liu CJ, Wu SM, Chen CK, Chen JJ, Mao CT, Lai YT, Lo WS, Chang WH, Li WH.

Genome Biol Evol. 2013;5(7):1376-92. doi: 10.1093/gbe/evt097.

PMID:
23814129
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

The Genetics of Keratoconus: A Review.

Wheeler J, Hauser MA, Afshari NA, Allingham RR, Liu Y.

Reprod Syst Sex Disord. 2012 Jun 3;(Suppl 6). pii: 001.

PMID:
23795306
[PubMed]
Free PMC Article
13.

Joint genotype inference with germline and somatic mutations.

Bareke E, Saillour V, Spinella JF, Vidal R, Healy J, Sinnett D, Csűrös M.

BMC Bioinformatics. 2013;14 Suppl 5:S3. doi: 10.1186/1471-2105-14-S5-S3. Epub 2013 Apr 10.

PMID:
23734724
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

The genomics of preterm birth: from animal models to human studies.

Bezold KY, Karjalainen MK, Hallman M, Teramo K, Muglia LJ.

Genome Med. 2013 Apr 29;5(4):34. doi: 10.1186/gm438. eCollection 2013. Review.

PMID:
23673148
[PubMed]
Free PMC Article
15.

Are results of targeted gene sequencing ready to be used for clinical decision making for patients with acute myelogenous leukemia?

Rao AV, Smith BD.

Curr Hematol Malig Rep. 2013 Jun;8(2):149-55. doi: 10.1007/s11899-013-0161-6. Review.

PMID:
23595294
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Massively-parallel sequencing of genes on a single chromosome: a comparison of solution hybrid selection and flow sorting.

Teer JK, Johnston JJ, Anzick SL, Pineda M, Stone G; NISC Comparative Sequencing Program, Meltzer PS, Mullikin JC, Biesecker LG.

BMC Genomics. 2013 Apr 15;14:253. doi: 10.1186/1471-2164-14-253.

PMID:
23586822
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Hunting human disease genes: lessons from the past, challenges for the future.

Brunham LR, Hayden MR.

Hum Genet. 2013 Jun;132(6):603-17. doi: 10.1007/s00439-013-1286-3. Epub 2013 Mar 17. Review.

PMID:
23504071
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

CoNVEX: copy number variation estimation in exome sequencing data using HMM.

Amarasinghe KC, Li J, Halgamuge SK.

BMC Bioinformatics. 2013;14 Suppl 2:S2. doi: 10.1186/1471-2105-14-S2-S2. Epub 2013 Jan 21.

PMID:
23368785
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

Diaz-Horta O, Duman D, Foster J 2nd, Sırmacı A, Gonzalez M, Mahdieh N, Fotouhi N, Bonyadi M, Cengiz FB, Menendez I, Ulloa RH, Edwards YJ, Züchner S, Blanton S, Tekin M.

PLoS One. 2012;7(11):e50628. doi: 10.1371/journal.pone.0050628. Epub 2012 Nov 30.

PMID:
23226338
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Review of massively parallel DNA sequencing technologies.

Moorthie S, Mattocks CJ, Wright CF.

Hugo J. 2011 Dec;5(1-4):1-12. doi: 10.1007/s11568-011-9156-3. Epub 2011 Oct 27.

PMID:
23205160
[PubMed]
Free PMC Article

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