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Stephen T Sherry

Explore the profile of Stephen T Sherry including associated specialties, affiliations and a list of published articles. Areas
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Recent Articles
11.
Dyke S, Linden M, Lappalainen I, De Argila J, Carey K, Lloyd D, et al.
Eur J Hum Genet . 2018 Aug; 26(12):1721-1731. PMID: 30069064
The Global Alliance for Genomics and Health (GA4GH) proposes a data access policy model-"registered access"-to increase and improve access to data requiring an agreement to basic terms and conditions, such...
12.
Jin Y, Schaffer A, Sherry S, Feolo M
PLoS One . 2017 Jun; 12(6):e0179106. PMID: 28609482
Genome-wide association studies (GWAS) usually rely on the assumption that different samples are not from closely related individuals. Detection of duplicates and close relatives becomes more difficult both statistically and...
13.
Wong K, Langlais K, Tobias G, Fletcher-Hoppe C, Krasnewich D, Leeds H, et al.
Nucleic Acids Res . 2016 Dec; 45(D1):D819-D826. PMID: 27899644
The database of Genotypes and Phenotypes (dbGaP) Data Browser (https://www.ncbi.nlm.nih.gov/gap/ddb/) was developed in response to requests from the scientific community for a resource that enable view-only access to summary-level information...
14.
Zook J, Catoe D, McDaniel J, Vang L, Spies N, Sidow A, et al.
Sci Data . 2016 Jun; 3:160025. PMID: 27271295
The Genome in a Bottle Consortium, hosted by the National Institute of Standards and Technology (NIST) is creating reference materials and data for human genome sequencing, as well as methods...
15.
Dyke S, Philippakis A, De Argila J, Paltoo D, Luetkemeier E, Knoppers B, et al.
PLoS Genet . 2016 Jan; 12(1):e1005772. PMID: 26796797
A systematic way of recording data use conditions that are based on consent permissions as found in the datasets of the main public genome archives (NCBI dbGaP and EMBL-EBI/CRG EGA).
16.
Rehm H, Berg J, Brooks L, Bustamante C, Evans J, Landrum M, et al.
N Engl J Med . 2015 May; 372(23):2235-42. PMID: 26014595
On autopsy, a patient is found to have hypertrophic cardiomyopathy. The patient’s family pursues genetic testing that shows a “likely pathogenic” variant for the condition on the basis of a...
17.
Ramos E, Din-Lovinescu C, Berg J, Brooks L, Duncanson A, Dunn M, et al.
Am J Med Genet C Semin Med Genet . 2014 Mar; 166C(1):93-104. PMID: 24634402
Genome-wide association studies, DNA sequencing studies, and other genomic studies are finding an increasing number of genetic variants associated with clinical phenotypes that may be useful in developing diagnostic, preventive,...
18.
Ramos E, Hoffman D, Junkins H, Maglott D, Phan L, Sherry S, et al.
Eur J Hum Genet . 2013 May; 22(1):144-7. PMID: 23695286
Rapidly accumulating data from genome-wide association studies (GWASs) and other large-scale studies are most useful when synthesized with existing databases. To address this opportunity, we developed the Phenotype-Genotype Integrator (PheGenI),...
19.
Ramos E, Din-Lovinescu C, Bookman E, McNeil L, Baker C, Godynskiy G, et al.
Am J Hum Genet . 2013 Apr; 92(4):479-88. PMID: 23561843
The Genetic Association Information Network (GAIN) Data Access Committee was established in June 2007 to provide prompt and fair access to data from six genome-wide association studies through the database...
20.
Sayers E, Barrett T, Benson D, Bolton E, Bryant S, Canese K, et al.
Nucleic Acids Res . 2011 Dec; 40(Database issue):D13-25. PMID: 22140104
In addition to maintaining the GenBank® nucleic acid sequence database, the National Center for Biotechnology Information (NCBI) provides analysis and retrieval resources for the data in GenBank and other biological...