Scientific Publications

Search by Keyword(s)
Found 19 results

Filters: Author is Fennell, T  [Clear All Filters]

Search Results

  • Showing 1-19 of 19 Results
2014
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes.Flannick, J., Thorleifsson G., Beer NL, Jacobs SB, Grarup N., Burtt NP, Mahajan A., Fuchsberger C., Atzmon G., Benediktsson R., Blangero J., Bowden DW, Brandslund I., Brosnan J., Burslem F., Chambers J., Cho YS, Christensen C., Douglas DA, Duggirala R., et al. Nature genetics, 2014/03/02, (2014) Read More / View Supplemental Materials
Abstract
A polygenic burden of rare disruptive mutations in schizophrenia.Purcell, SM, Moran JL, Fromer M., Ruderfer D., Solovieff N., Roussos P., O'Dushlaine C., Chambert K., Bergen SE, Kähler A., Duncan L., Stahl E., Genovese G., Fernández E., Collins MO, Komiyama NH, Choudhary JS, Magnusson PK, Banks E., Shakir K., et al. Nature, 2014/02/13, Volume 506, Issue 7487, p.185-90, (2014) Read More / View Supplemental Materials
Abstract
2013
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico.The SIGMA Type 2 Diabetes, Consortium, team Writing, Williams AL, Jacobs SB, Moreno-Macías H., Huerta-Chagoya A., Churchhouse C., Márquez-Luna C., García-Ortíz H., José Gómez-Vázquez M., Burtt NP, Aguilar-Salinas CA, González-Villalpando C., Florez JC, Orozco L., Haiman CA, Tusié-Luna T., Altshuler D., team Analysis, Williams AL, et al. Nature, 2013/12/25, (2013) Read More / View Supplemental Materials
Abstract
Mutational heterogeneity in cancer and the search for new cancer-associated genes.Lawrence, MS, Stojanov P., Polak P., Kryukov GV, Cibulskis K., Sivachenko A., Carter SL, Stewart C., Mermel CH, Roberts SA, Kiezun A., Hammerman PS, McKenna A., Drier Y., Zou L., Ramos AH, Pugh TJ, Stransky N., Helman E., Kim J., et al. Nature, 2013/07/11, Volume 499, Issue 7457, p.214-8, (2013) Read More / View Supplemental Materials
Abstract
Comparative analysis of RNA sequencing methods for degraded or low-input samples.Adiconis, X., Borges-Rivera D., Satija R., Deluca DS, Busby MA, Berlin AM, Sivachenko A., Thompson DA, Wysoker A., Fennell T., Gnirke A., Pochet N., Regev A., and Levin JZ Nature methods, 2013/05/19, (2013) Read More / View Supplemental Materials
Abstract
2012
RNA-SeQC: RNA-seq metrics for quality control and process optimization.Deluca, DS, Levin JZ, Sivachenko A., Fennell T., Nazaire MD, Williams C., Reich M., Winckler W., and Getz G. Bioinformatics (Oxford, England), 2012/06/01, Volume 28, Issue 11, p.1530-2, (2012) Read More / View Supplemental Materials
Abstract
Melanoma genome sequencing reveals frequent PREX2 mutations.Berger, MF, Hodis E., Heffernan TP, Deribe YL, Lawrence MS, Protopopov A., Ivanova E., Watson IR, Nickerson E., Ghosh P., Zhang H., Zeid R., Ren X., Cibulskis K., Sivachenko AY, Wagle N., Sucker A., Sougnez C., Onofrio R., Ambrogio L., et al. Nature, 2012/05/09, Volume 485, Issue 7399, p.502-6, (2012) Read More / View Supplemental Materials
Abstract
Patterns and rates of exonic de novo mutations in autism spectrum disorders.Neale, BM, Kou Y., Liu L., Ma'ayan A., Samocha KE, Sabo A., Lin CF, Stevens C., Wang LS, Makarov V., Polak P., Yoon S., Maguire J., Crawford EL, Campbell NG, Geller ET, Valladares O., Schafer C., Liu H., Zhao T., et al. Nature, 2012/04/04, (2012) Read More / View Supplemental Materials
Abstract
Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries.Aird, D., Ross MG, Chen WS, Danielsson M., Fennell T., Russ C., Jaffe DB, Nusbaum C., and Gnirke A. Genome biology, 2012/01/09, Volume 12, Issue 2, p.R18, (2012) Read More / View Supplemental Materials
Abstract
Targeted next-generation sequencing of a cancer transcriptome enhances detection of sequence variants and novel fusion transcripts.Levin, JZ, Berger MF, Adiconis X., Rogov P., Melnikov A., Fennell T., Nusbaum C., Garraway LA, and Gnirke A. Genome biology, 2012/01/09, Volume 10, Issue 10, p.R115, (2012) Read More / View Supplemental Materials
Abstract
2011
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.Rivas, MA, Beaudoin M., Gardet A., Stevens C., Sharma Y., Zhang CK, Boucher G., Ripke S., Ellinghaus D., Burtt N., Fennell T., Kirby A., Latiano A., Goyette P., Green T., Halfvarson J., Haritunians T., Korn JM, Kuruvilla F., Lagacé C., et al. Nature genetics, 2011/10/09, Volume 43, Issue 11, p.1066-73, (2011) Read More / View Supplemental Materials
Abstract
ContEst: estimating cross-contamination of human samples in next-generation sequencing data.Cibulskis, K., McKenna A., Fennell T., Banks E., DePristo M., and Getz G. Bioinformatics (Oxford, England), 2011/09/15, Volume 27, Issue 18, p.2601-2, (2011) Read More / View Supplemental Materials
Abstract
Hybrid selection for sequencing pathogen genomes from clinical samples.Melnikov, A., Galinsky K., Rogov P., Fennell T., Van Tyne D., Russ C., Daniels R., Barnes KG, Bochicchio J., Ndiaye D., Sene PD, Wirth DF, Nusbaum C., Volkman SK, Birren BW, Gnirke A., and Neafsey DE Genome biology, 2011/08/11, Volume 12, Issue 8, p.R73, (2011) Read More / View Supplemental Materials
Abstract
The genomic complexity of primary human prostate cancer.Berger, MF, Lawrence MS, Demichelis F., Drier Y., Cibulskis K., Sivachenko AY, Sboner A., Esgueva R., Pflueger D., Sougnez C., Onofrio R., Carter SL, Park K., Habegger L., Ambrogio L., Fennell T., Parkin M., Saksena G., Voet D., Ramos AH, et al. Nature, 2011/02/10, Volume 470, Issue 7333, p.214-20, (2011) Read More / View Supplemental Materials
Abstract
2010
Targeted exon sequencing by in-solution hybrid selection.Blumenstiel, B., Cibulskis K., Fisher S., DeFelice M., Barry A., Fennell T., Abreu J., Minie B., Costello M., Young G., Maquire J., Kernytsky A., Melnikov A., Rogov P., Gnirke A., and Gabriel S. Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.], 2010/07/01, Volume Chapter 18, p.Unit 18.4, (2010) Read More / View Supplemental Materials
Abstract
2009
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., and 1000 Genome Project Data Processing Subgroup Bioinformatics (Oxford, England), 2009/08/15, Volume 25, Issue 16, p.2078-9, (2009) Read More / View Supplemental Materials
Abstract
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 E. S., and Nusbaum C. Nature biotechnology, 2009/02/01, Volume 27, Issue 2, p.182-9, (2009) Read More / View Supplemental Materials
Abstract
2008
Somatic mutations affect key pathways in lung adenocarcinoma.Ding, L., Getz G., Wheeler DA, Mardis ER, McLellan MD, Cibulskis K., Sougnez C., Greulich H., Muzny DM, Morgan MB, Fulton L., Fulton RS, Zhang Q., Wendl MC, Lawrence MS, Larson DE, Chen K., Dooling DJ, Sabo A., Hawes AC, et al. Nature, 2008/10/23, Volume 455, Issue 7216, p.1069-75, (2008) Read More / View Supplemental Materials
Abstract
Drug-sensitive FGFR2 mutations in endometrial carcinoma.Dutt, A., Salvesen HB, Chen TH, Ramos AH, Onofrio RC, Hatton C., Nicoletti R., Winckler W., Grewal R., Hanna M., Wyhs N., Ziaugra L., Richter DJ, Trovik J., Engelsen IB, Stefansson IM, Fennell T., Cibulskis K., Zody MC, Akslen LA, et al. Proceedings of the National Academy of Sciences of the United States of America, 2008/06/24, Volume 105, Issue 25, p.8713-7, (2008) Read More / View Supplemental Materials
Abstract
  • Showing 1-19 of 19 Results