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Items: 1 to 20 of 108

1.

U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line.

Clark MJ, Homer N, O'Connor BD, Chen Z, Eskin A, Lee H, Merriman B, Nelson SF.

PLoS Genet. 2010 Jan 29;6(1):e1000832. doi: 10.1371/journal.pgen.1000832.

2.

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding.

McKernan KJ, Peckham HE, Costa GL, McLaughlin SF, Fu Y, Tsung EF, Clouser CR, Duncan C, Ichikawa JK, Lee CC, Zhang Z, Ranade SS, Dimalanta ET, Hyland FC, Sokolsky TD, Zhang L, Sheridan A, Fu H, Hendrickson CL, Li B, Kotler L, Stuart JR, Malek JA, Manning JM, Antipova AA, Perez DS, Moore MP, Hayashibara KC, Lyons MR, Beaudoin RE, Coleman BE, Laptewicz MW, Sannicandro AE, Rhodes MD, Gottimukkala RK, Yang S, Bafna V, Bashir A, MacBride A, Alkan C, Kidd JM, Eichler EE, Reese MG, De La Vega FM, Blanchard AP.

Genome Res. 2009 Sep;19(9):1527-41. doi: 10.1101/gr.091868.109. Epub 2009 Jun 22.

3.

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.

Belkadi A, Bolze A, Itan Y, Cobat A, Vincent QB, Antipenko A, Shang L, Boisson B, Casanova JL, Abel L.

Proc Natl Acad Sci U S A. 2015 Apr 28;112(17):5473-8. doi: 10.1073/pnas.1418631112. Epub 2015 Mar 31.

4.

A probabilistic method for the detection and genotyping of small indels from population-scale sequence data.

Bansal V, Libiger O.

Bioinformatics. 2011 Aug 1;27(15):2047-53. doi: 10.1093/bioinformatics/btr344. Epub 2011 Jun 7.

5.

Sequencing and annotated analysis of the Holstein cow genome.

Kõks S, Lilleoja R, Reimann E, Salumets A, Reemann P, Jaakma Ü.

Mamm Genome. 2013 Aug;24(7-8):309-21. doi: 10.1007/s00335-013-9464-0. Epub 2013 Jul 27.

PMID:
23893136
6.

Sequencing and annotated analysis of full genome of Holstein breed bull.

Kõks S, Reimann E, Lilleoja R, Lättekivi F, Salumets A, Reemann P, Jaakma Ü.

Mamm Genome. 2014 Aug;25(7-8):363-73. doi: 10.1007/s00335-014-9511-5. Epub 2014 Apr 26.

PMID:
24770584
7.

Sequence variants from whole genome sequencing a large group of Icelanders.

Gudbjartsson DF, Sulem P, Helgason H, Gylfason A, Gudjonsson SA, Zink F, Oddson A, Magnusson G, Halldorsson BV, Hjartarson E, Sigurdsson GT, Kong A, Helgason A, Masson G, Magnusson OT, Thorsteinsdottir U, Stefansson K.

Sci Data. 2015 Mar 25;2:150011. doi: 10.1038/sdata.2015.11. eCollection 2015.

8.

Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML.

Link DC, Schuettpelz LG, Shen D, Wang J, Walter MJ, Kulkarni S, Payton JE, Ivanovich J, Goodfellow PJ, Le Beau M, Koboldt DC, Dooling DJ, Fulton RS, Bender RH, Fulton LL, Delehaunty KD, Fronick CC, Appelbaum EL, Schmidt H, Abbott R, O'Laughlin M, Chen K, McLellan MD, Varghese N, Nagarajan R, Heath S, Graubert TA, Ding L, Ley TJ, Zambetti GP, Wilson RK, Mardis ER.

JAMA. 2011 Apr 20;305(15):1568-76. doi: 10.1001/jama.2011.473.

10.

Evaluation of whole-genome sequencing of four Chinese crested dogs for variant detection using the ion proton system.

Viluma A, Sayyab S, Mikko S, Andersson G, Bergström TF.

Canine Genet Epidemiol. 2015 Oct 8;2:16. doi: 10.1186/s40575-015-0029-2. eCollection 2015.

11.

Deep sequencing of Danish Holstein dairy cattle for variant detection and insight into potential loss-of-function variants in protein coding genes.

Das A, Panitz F, Gregersen VR, Bendixen C, Holm LE.

BMC Genomics. 2015 Dec 9;16:1043. doi: 10.1186/s12864-015-2249-y.

12.

BFAST: an alignment tool for large scale genome resequencing.

Homer N, Merriman B, Nelson SF.

PLoS One. 2009 Nov 11;4(11):e7767. doi: 10.1371/journal.pone.0007767.

13.

Characteristics of de novo structural changes in the human genome.

Kloosterman WP, Francioli LC, Hormozdiari F, Marschall T, Hehir-Kwa JY, Abdellaoui A, Lameijer EW, Moed MH, Koval V, Renkens I, van Roosmalen MJ, Arp P, Karssen LC, Coe BP, Handsaker RE, Suchiman ED, Cuppen E, Thung DT, McVey M, Wendl MC; Genome of Netherlands Consortium, Uitterlinden A, van Duijn CM, Swertz MA, Wijmenga C, van Ommen GB, Slagboom PE, Boomsma DI, Schönhuth A, Eichler EE, de Bakker PI, Ye K, Guryev V.

Genome Res. 2015 Jun;25(6):792-801. doi: 10.1101/gr.185041.114. Epub 2015 Apr 16.

14.

Whole-genome sequencing of nine esophageal adenocarcinoma cell lines.

Contino G, Eldridge MD, Secrier M, Bower L, Fels Elliott R, Weaver J, Lynch AG, Edwards PA, Fitzgerald RC.

F1000Res. 2016 Jun 10;5:1336. doi: 10.12688/f1000research.7033.1. eCollection 2016.

15.

Whole genome sequencing reveals potential targets for therapy in patients with refractory KRAS mutated metastatic colorectal cancer.

Shanmugam V, Ramanathan RK, Lavender NA, Sinari S, Chadha M, Liang WS, Kurdoglu A, Izatt T, Christoforides A, Benson H, Phillips L, Baker A, Murray C, Hostetter G, Von Hoff DD, Craig DW, Carpten JD.

BMC Med Genomics. 2014 Jun 18;7:36. doi: 10.1186/1755-8794-7-36.

16.

SRmapper: a fast and sensitive genome-hashing alignment tool.

Gontarz PM, Berger J, Wong CF.

Bioinformatics. 2013 Feb 1;29(3):316-21. doi: 10.1093/bioinformatics/bts712. Epub 2012 Dec 24.

PMID:
23267171
17.

Performance comparison of whole-genome sequencing platforms.

Lam HY, Clark MJ, Chen R, Chen R, Natsoulis G, O'Huallachain M, Dewey FE, Habegger L, Ashley EA, Gerstein MB, Butte AJ, Ji HP, Snyder M.

Nat Biotechnol. 2011 Dec 18;30(1):78-82. doi: 10.1038/nbt.2065. Erratum in: Nat Biotechnol. 2012 Jun;30(6):562.

18.

Global assessment of genomic variation in cattle by genome resequencing and high-throughput genotyping.

Zhan B, Fadista J, Thomsen B, Hedegaard J, Panitz F, Bendixen C.

BMC Genomics. 2011 Nov 14;12:557. doi: 10.1186/1471-2164-12-557.

19.

Whole genome sequence of a Turkish individual.

Dogan H, Can H, Otu HH.

PLoS One. 2014 Jan 9;9(1):e85233. doi: 10.1371/journal.pone.0085233. eCollection 2014.

20.

SInC: an accurate and fast error-model based simulator for SNPs, Indels and CNVs coupled with a read generator for short-read sequence data.

Pattnaik S, Gupta S, Rao AA, Panda B.

BMC Bioinformatics. 2014 Feb 5;15:40. doi: 10.1186/1471-2105-15-40.

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