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Items: 15

1.

Differential immune profiles distinguish the mutational subtypes of gastrointestinal stromal tumor.

Vitiello GA, Bowler TG, Liu M, Medina BD, Zhang JQ, Param NJ, Loo JK, Goldfeder RL, Chibon F, Rossi F, Zeng S, DeMatteo RP.

J Clin Invest. 2019 May 1;129(5):1863-1877. doi: 10.1172/JCI124108. Epub 2019 Feb 14.

2.

Human Genome Sequencing at the Population Scale: A Primer on High-Throughput DNA Sequencing and Analysis.

Goldfeder RL, Wall DP, Khoury MJ, Ioannidis JPA, Ashley EA.

Am J Epidemiol. 2017 Oct 15;186(8):1000-1009. doi: 10.1093/aje/kww224. Review.

3.

Delivering Clinical Grade Sequencing and Genetic Test Interpretation for Cardiovascular Medicine.

Harper AR, Parikh VN, Goldfeder RL, Caleshu C, Ashley EA.

Circ Cardiovasc Genet. 2017 Apr;10(2). pii: e001221. doi: 10.1161/CIRCGENETICS.116.001221. Review. No abstract available.

PMID:
28411191
4.

Feasibility of Obtaining Measures of Lifestyle From a Smartphone App: The MyHeart Counts Cardiovascular Health Study.

McConnell MV, Shcherbina A, Pavlovic A, Homburger JR, Goldfeder RL, Waggot D, Cho MK, Rosenberger ME, Haskell WL, Myers J, Champagne MA, Mignot E, Landray M, Tarassenko L, Harrington RA, Yeung AC, Ashley EA.

JAMA Cardiol. 2017 Jan 1;2(1):67-76. doi: 10.1001/jamacardio.2016.4395.

PMID:
27973671
5.

HARNESSING BIG DATA FOR PRECISION MEDICINE: INFRASTRUCTURES AND APPLICATIONS.

Yu KH, Hart SN, Goldfeder R, Zhang QC, Parker SCJ, Snyder M.

Pac Symp Biocomput. 2017;22:635-639. doi: 10.1142/9789813207813_0058.

6.

A research roadmap for next-generation sequencing informatics.

Altman RB, Prabhu S, Sidow A, Zook JM, Goldfeder R, Litwack D, Ashley E, Asimenos G, Bustamante CD, Donigan K, Giacomini KM, Johansen E, Khuri N, Lee E, Liang XS, Salit M, Serang O, Tezak Z, Wall DP, Mansfield E, Kass-Hout T.

Sci Transl Med. 2016 Apr 20;8(335):335ps10. doi: 10.1126/scitranslmed.aaf7314. Review.

7.

Effect of lossy compression of quality scores on variant calling.

Ochoa I, Hernaez M, Goldfeder R, Weissman T, Ashley E.

Brief Bioinform. 2017 Mar 1;18(2):183-194. doi: 10.1093/bib/bbw011.

8.

Medical implications of technical accuracy in genome sequencing.

Goldfeder RL, Priest JR, Zook JM, Grove ME, Waggott D, Wheeler MT, Salit M, Ashley EA.

Genome Med. 2016 Mar 2;8(1):24. doi: 10.1186/s13073-016-0269-0.

9.

Denoising of Quality Scores for Boosted Inference and Reduced Storage.

Ochoa I, Hernaez M, Goldfeder R, Weissman T, Ashley E.

Proc Data Compress Conf. 2016 Mar-Apr;2016:251-260. doi: 10.1109/DCC.2016.92. Epub 2016 Dec 19.

10.

An Evaluation Framework for Lossy Compression of Genome Sequencing Quality Values.

Alberti C, Daniels N, Hernaez M, Voges J, Goldfeder RL, Hernandez-Lopez AA, Mattavelli M, Berger B.

Proc Data Compress Conf. 2016 Mar-Apr;2016:221-230. doi: 10.1109/DCC.2016.39. Epub 2016 Dec 19.

11.

Mining Twitter Data to Improve Detection of Schizophrenia.

McManus K, Mallory EK, Goldfeder RL, Haynes WA, Tatum JD.

AMIA Jt Summits Transl Sci Proc. 2015 Mar 25;2015:122-6. eCollection 2015.

12.

Clinical interpretation and implications of whole-genome sequencing.

Dewey FE, Grove ME, Pan C, Goldstein BA, Bernstein JA, Chaib H, Merker JD, Goldfeder RL, Enns GM, David SP, Pakdaman N, Ormond KE, Caleshu C, Kingham K, Klein TE, Whirl-Carrillo M, Sakamoto K, Wheeler MT, Butte AJ, Ford JM, Boxer L, Ioannidis JP, Yeung AC, Altman RB, Assimes TL, Snyder M, Ashley EA, Quertermous T.

JAMA. 2014 Mar 12;311(10):1035-45. doi: 10.1001/jama.2014.1717.

13.

Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation.

Bonnycastle LL, Chines PS, Hara T, Huyghe JR, Swift AJ, Heikinheimo P, Mahadevan J, Peltonen S, Huopio H, Nuutila P, Narisu N, Goldfeder RL, Stitzel ML, Lu S, Boehnke M, Urano F, Collins FS, Laakso M.

Diabetes. 2013 Nov;62(11):3943-50. doi: 10.2337/db13-0571. Epub 2013 Jul 31.

14.

Modeling Drosophila positional preferences in open field arenas with directional persistence and wall attraction.

Soibam B, Goldfeder RL, Manson-Bishop C, Gamblin R, Pletcher SD, Shah S, Gunaratne GH, Roman GW.

PLoS One. 2012;7(10):e46570. doi: 10.1371/journal.pone.0046570. Epub 2012 Oct 10. Erratum in: PLoS One. 2012;7(10). doi: 10.1371/annotation/2ccf0a7e-4f7e-47e3-9aa2-b946fbf698b7.

15.

A bioinformatics approach for determining sample identity from different lanes of high-throughput sequencing data.

Goldfeder RL, Parker SC, Ajay SS, Ozel Abaan H, Margulies EH.

PLoS One. 2011;6(8):e23683. doi: 10.1371/journal.pone.0023683. Epub 2011 Aug 17.

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