Kohane IS - Search Results

1

Rcupcake: an R package for querying and analyzing biomedical data through the BD2K PIC-SURE RESTful API.

Gutiérrez-Sacristán A, Guedj R, Korodi G, Stedman J, Furlong LI, Patel CJ, Kohane IS, Avillach P. Gutiérrez-Sacristán A, et al. Among authors: kohane is. Bioinformatics. 2018 Apr 15;34(8):1431-1432. doi: 10.1093/bioinformatics/btx788. Bioinformatics. 2018. PMID: 29267850 Free PMC article.

2

Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations.

Tong MY, Cassa CA, Kohane IS. Tong MY, et al. Among authors: kohane is. Bioinformatics. 2011 Mar 15;27(6):891-3. doi: 10.1093/bioinformatics/btr029. Epub 2011 Jan 22. Bioinformatics. 2011. PMID: 21258063 Free PMC article.

3

Prevalence of Inflammatory Bowel Disease Among Patients with Autism Spectrum Disorders.

Doshi-Velez F, Avillach P, Palmer N, Bousvaros A, Ge Y, Fox K, Steinberg G, Spettell C, Juster I, Kohane I. Doshi-Velez F, et al. Inflamm Bowel Dis. 2015 Oct;21(10):2281-8. doi: 10.1097/MIB.0000000000000502. Inflamm Bowel Dis. 2015. PMID: 26218138

4

REPRODUCIBLE AND SHAREABLE QUANTIFICATIONS OF PATHOGENICITY.

Manrai AK, Wang BL, Patel CJ, Kohane IS. Manrai AK, et al. Among authors: kohane is. Pac Symp Biocomput. 2016;21:231-42. Pac Symp Biocomput. 2016. PMID: 26776189 Free PMC article.

5

ksRepo: a generalized platform for computational drug repositioning.

Brown AS, Kong SW, Kohane IS, Patel CJ. Brown AS, et al. Among authors: kohane is. BMC Bioinformatics. 2016 Feb 9;17:78. doi: 10.1186/s12859-016-0931-y. BMC Bioinformatics. 2016. PMID: 26860211 Free PMC article.

6

Systematic correlation of environmental exposure and physiological and self-reported behaviour factors with leukocyte telomere length.

Patel CJ, Manrai AK, Corona E, Kohane IS. Patel CJ, et al. Among authors: kohane is. Int J Epidemiol. 2017 Feb 1;46(1):44-56. doi: 10.1093/ije/dyw043. Int J Epidemiol. 2017. PMID: 27059547 Free PMC article.

7

A database of human exposomes and phenomes from the US National Health and Nutrition Examination Survey.

Patel CJ, Pho N, McDuffie M, Easton-Marks J, Kothari C, Kohane IS, Avillach P. Patel CJ, et al. Among authors: kohane is. Sci Data. 2016 Oct 25;3:160096. doi: 10.1038/sdata.2016.96. Sci Data. 2016. PMID: 27779619 Free PMC article.

8

METHODS TO ENHANCE THE REPRODUCIBILITY OF PRECISION MEDICINE.

Manrai AK, Patel CJ, Gehlenborg N, Tatonetti NP, Ioannidis JP, Kohane IS. Manrai AK, et al. Among authors: kohane is. Pac Symp Biocomput. 2016;21:180-182. Pac Symp Biocomput. 2016. PMID: 28004011 Free PMC article. No abstract available.

9

Combining clinical and genomics queries using i2b2 - Three methods.

Murphy SN, Avillach P, Bellazzi R, Phillips L, Gabetta M, Eran A, McDuffie MT, Kohane IS. Murphy SN, et al. Among authors: kohane is. PLoS One. 2017 Apr 7;12(4):e0172187. doi: 10.1371/journal.pone.0172187. eCollection 2017. PLoS One. 2017. PMID: 28388645 Free PMC article.

10

Phelan-McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports.

Kothari C, Wack M, Hassen-Khodja C, Finan S, Savova G, O'Boyle M, Bliss G, Cornell A, Horn EJ, Davis R, Jacobs J, Kohane I, Avillach P. Kothari C, et al. Am J Med Genet B Neuropsychiatr Genet. 2018 Oct;177(7):613-624. doi: 10.1002/ajmg.b.32579. Epub 2017 Sep 1. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 28862395 Free PMC article.

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