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Results: 1 to 20 of 38

1.

Phased whole-genome genetic risk in a family quartet using a major allele reference sequence.

Dewey FE, Chen R, Cordero SP, Ormond KE, Caleshu C, Karczewski KJ, Whirl-Carrillo M, Wheeler MT, Dudley JT, Byrnes JK, Cornejo OE, Knowles JW, Woon M, Sangkuhl K, Gong L, Thorn CF, Hebert JM, Capriotti E, David SP, Pavlovic A, West A, Thakuria JV, Ball MP, Zaranek AW, Rehm HL, Church GM, West JS, Bustamante CD, Snyder M, Altman RB, Klein TE, Butte AJ, Ashley EA.

PLoS Genet. 2011 Sep;7(9):e1002280. doi: 10.1371/journal.pgen.1002280. Epub 2011 Sep 15.

PMID:
21935354
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

FERM domain mutations induce gain of function in JAK3 in adult T-cell leukemia/lymphoma.

Elliott NE, Cleveland SM, Grann V, Janik J, Waldmann TA, Davé UP.

Blood. 2011 Oct 6;118(14):3911-21. doi: 10.1182/blood-2010-12-319467. Epub 2011 Aug 5.

PMID:
21821710
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

A framework for variation discovery and genotyping using next-generation DNA sequencing data.

DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ.

Nat Genet. 2011 May;43(5):491-8. doi: 10.1038/ng.806. Epub 2011 Apr 10.

PMID:
21478889
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis.

Timmermann B, Kerick M, Roehr C, Fischer A, Isau M, Boerno ST, Wunderlich A, Barmeyer C, Seemann P, Koenig J, Lappe M, Kuss AW, Garshasbi M, Bertram L, Trappe K, Werber M, Herrmann BG, Zatloukal K, Lehrach H, Schweiger MR.

PLoS One. 2010 Dec 22;5(12):e15661. doi: 10.1371/journal.pone.0015661.

PMID:
21203531
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

Shearer AE, DeLuca AP, Hildebrand MS, Taylor KR, Gurrola J 2nd, Scherer S, Scheetz TE, Smith RJ.

Proc Natl Acad Sci U S A. 2010 Dec 7;107(49):21104-9. doi: 10.1073/pnas.1012989107. Epub 2010 Nov 15.

PMID:
21078986
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Prognostic implications of mutations and expression of the Wilms tumor 1 (WT1) gene in adult acute T-lymphoblastic leukemia.

Heesch S, Goekbuget N, Stroux A, Tanchez JO, Schlee C, Burmeister T, Schwartz S, Blau O, Keilholz U, Busse A, Hoelzer D, Thiel E, Hofmann WK, Baldus CD.

Haematologica. 2010 Jun;95(6):942-9. doi: 10.3324/haematol.2009.016386. Epub 2010 Apr 30.

PMID:
20435628
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Array-based genomic resequencing of human leukemia.

Yamashita Y, Yuan J, Suetake I, Suzuki H, Ishikawa Y, Choi YL, Ueno T, Soda M, Hamada T, Haruta H, Takada S, Miyazaki Y, Kiyoi H, Ito E, Naoe T, Tomonaga M, Toyota M, Tajima S, Iwama A, Mano H.

Oncogene. 2010 Jun 24;29(25):3723-31. doi: 10.1038/onc.2010.117. Epub 2010 Apr 19.

PMID:
20400977
[PubMed - indexed for MEDLINE]
8.

PHF6 mutations in T-cell acute lymphoblastic leukemia.

Van Vlierberghe P, Palomero T, Khiabanian H, Van der Meulen J, Castillo M, Van Roy N, De Moerloose B, Philippé J, González-García S, Toribio ML, Taghon T, Zuurbier L, Cauwelier B, Harrison CJ, Schwab C, Pisecker M, Strehl S, Langerak AW, Gecz J, Sonneveld E, Pieters R, Paietta E, Rowe JM, Wiernik PH, Benoit Y, Soulier J, Poppe B, Yao X, Cordon-Cardo C, Meijerink J, Rabadan R, Speleman F, Ferrando A.

Nat Genet. 2010 Apr;42(4):338-42. doi: 10.1038/ng.542. Epub 2010 Mar 14.

PMID:
20228800
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Fast and accurate long-read alignment with Burrows-Wheeler transform.

Li H, Durbin R.

Bioinformatics. 2010 Mar 1;26(5):589-95. doi: 10.1093/bioinformatics/btp698. Epub 2010 Jan 15.

PMID:
20080505
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

A SNP discovery method to assess variant allele probability from next-generation resequencing data.

Shen Y, Wan Z, Coarfa C, Drabek R, Chen L, Ostrowski EA, Liu Y, Weinstock GM, Wheeler DA, Gibbs RA, Yu F.

Genome Res. 2010 Feb;20(2):273-80. doi: 10.1101/gr.096388.109. Epub 2009 Dec 17.

PMID:
20019143
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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
12.

Frequency and clinical relevance of DNA microsatellite alterations of the CDKN2A/B, ATM and p53 gene loci: a comparison between pediatric precursor T-cell lymphoblastic lymphoma and T-cell lymphoblastic leukemia.

Krieger D, Moericke A, Oschlies I, Zimmermann M, Schrappe M, Reiter A, Burkhardt B.

Haematologica. 2010 Jan;95(1):158-62. doi: 10.3324/haematol.2009.007526. Epub 2009 Jul 7.

PMID:
19586936
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

VarScan: variant detection in massively parallel sequencing of individual and pooled samples.

Koboldt DC, Chen K, Wylie T, Larson DE, McLellan MD, Mardis ER, Weinstock GM, Wilson RK, Ding L.

Bioinformatics. 2009 Sep 1;25(17):2283-5. doi: 10.1093/bioinformatics/btp373. Epub 2009 Jun 19.

PMID:
19542151
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

The Sequence Alignment/Map format and SAMtools.

Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R; 1000 Genome Project Data Processing Subgroup.

Bioinformatics. 2009 Aug 15;25(16):2078-9. doi: 10.1093/bioinformatics/btp352. Epub 2009 Jun 8.

PMID:
19505943
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

WT1 mutations in T-ALL.

Tosello V, Mansour MR, Barnes K, Paganin M, Sulis ML, Jenkinson S, Allen CG, Gale RE, Linch DC, Palomero T, Real P, Murty V, Yao X, Richards SM, Goldstone A, Rowe J, Basso G, Wiernik PH, Paietta E, Pieters R, Horstmann M, Meijerink JP, Ferrando AA.

Blood. 2009 Jul 30;114(5):1038-45. doi: 10.1182/blood-2008-12-192039. Epub 2009 Jun 3.

PMID:
19494353
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Acquired mutations in TET2 are common in myelodysplastic syndromes.

Langemeijer SM, Kuiper RP, Berends M, Knops R, Aslanyan MG, Massop M, Stevens-Linders E, van Hoogen P, van Kessel AG, Raymakers RA, Kamping EJ, Verhoef GE, Verburgh E, Hagemeijer A, Vandenberghe P, de Witte T, van der Reijden BA, Jansen JH.

Nat Genet. 2009 Jul;41(7):838-42. doi: 10.1038/ng.391. Epub 2009 May 31.

PMID:
19483684
[PubMed - indexed for MEDLINE]
17.

Mutation in TET2 in myeloid cancers.

Delhommeau F, Dupont S, Della Valle V, James C, Trannoy S, Massé A, Kosmider O, Le Couedic JP, Robert F, Alberdi A, Lécluse Y, Plo I, Dreyfus FJ, Marzac C, Casadevall N, Lacombe C, Romana SP, Dessen P, Soulier J, Viguié F, Fontenay M, Vainchenker W, Bernard OA.

N Engl J Med. 2009 May 28;360(22):2289-301. doi: 10.1056/NEJMoa0810069.

PMID:
19474426
[PubMed - indexed for MEDLINE]
Free Article
18.

High frequency of PTEN, PI3K, and AKT abnormalities in T-cell acute lymphoblastic leukemia.

Gutierrez A, Sanda T, Grebliunaite R, Carracedo A, Salmena L, Ahn Y, Dahlberg S, Neuberg D, Moreau LA, Winter SS, Larson R, Zhang J, Protopopov A, Chin L, Pandolfi PP, Silverman LB, Hunger SP, Sallan SE, Look AT.

Blood. 2009 Jul 16;114(3):647-50. doi: 10.1182/blood-2009-02-206722. Epub 2009 May 20.

PMID:
19458356
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Evaluation of next generation sequencing platforms for population targeted sequencing studies.

Harismendy O, Ng PC, Strausberg RL, Wang X, Stockwell TB, Beeson KY, Schork NJ, Murray SS, Topol EJ, Levy S, Frazer KA.

Genome Biol. 2009;10(3):R32. doi: 10.1186/gb-2009-10-3-r32. Epub 2009 Mar 27.

PMID:
19327155
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis.

Tefferi A, Pardanani A, Lim KH, Abdel-Wahab O, Lasho TL, Patel J, Gangat N, Finke CM, Schwager S, Mullally A, Li CY, Hanson CA, Mesa R, Bernard O, Delhommeau F, Vainchenker W, Gilliland DG, Levine RL.

Leukemia. 2009 May;23(5):905-11. doi: 10.1038/leu.2009.47. Epub 2009 Mar 5.

PMID:
19262601
[PubMed - indexed for MEDLINE]
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