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The publication data currently available has been vetted by Vanderbilt faculty, staff, administrators and trainees. The data itself is retrieved directly from NCBI's PubMed and is automatically updated on a weekly basis to ensure accuracy and completeness.

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Results: 1 to 4 of 4

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Contextualizing genetic risk score for disease screening and rare variant discovery.
Zhou D, Yu D, Scharf JM, Mathews CA, McGrath L, Cook E, Lee SH, Davis LK, Gamazon ER
(2021) Nat Commun 12: 4418
MeSH Terms: Clinical Decision-Making, Datasets as Topic, Genetic Predisposition to Disease, Genetic Testing, Genome-Wide Association Study, Humans, Models, Genetic, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Risk Factors, Software, Whole Genome Sequencing
Added July 22, 2021
0 Communities
1 Members
0 Resources
12 MeSH Terms
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.
Bailey MH, Meyerson WU, Dursi LJ, Wang LB, Dong G, Liang WW, Weerasinghe A, Li S, Li Y, Kelso S, MC3 Working Group, PCAWG novel somatic mutation calling methods working group, Saksena G, Ellrott K, Wendl MC, Wheeler DA, Getz G, Simpson JT, Gerstein MB, Ding L, PCAWG Consortium
(2020) Nat Commun 11: 4748
MeSH Terms: Base Composition, DNA, Intergenic, Databases, Genetic, Exome, Exons, Genome, Human, Humans, Mutation, Neoplasms, Retrospective Studies, Whole Exome Sequencing, Whole Genome Sequencing
Added April 27, 2021
0 Communities
1 Members
0 Resources
MeSH Terms
Genomic medicine for undiagnosed diseases.
Wise AL, Manolio TA, Mensah GA, Peterson JF, Roden DM, Tamburro C, Williams MS, Green ED
(2019) Lancet 394: 533-540
MeSH Terms: Adult, Child, Early Diagnosis, Genomics, Humans, Phenotype, Prenatal Diagnosis, Rare Diseases, Sequence Analysis, DNA, Whole Exome Sequencing, Whole Genome Sequencing
Added March 24, 2020
0 Communities
1 Members
0 Resources
MeSH Terms
Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees.
Jun G, Manning A, Almeida M, Zawistowski M, Wood AR, Teslovich TM, Fuchsberger C, Feng S, Cingolani P, Gaulton KJ, Dyer T, Blackwell TW, Chen H, Chines PS, Choi S, Churchhouse C, Fontanillas P, King R, Lee S, Lincoln SE, Trubetskoy V, DePristo M, Fingerlin T, Grossman R, Grundstad J, Heath A, Kim J, Kim YJ, Laramie J, Lee J, Li H, Liu X, Livne O, Locke AE, Maller J, Mazur A, Morris AP, Pollin TI, Ragona D, Reich D, Rivas MA, Scott LJ, Sim X, Tearle RG, Teo YY, Williams AL, Zöllner S, Curran JE, Peralta J, Akolkar B, Bell GI, Burtt NP, Cox NJ, Florez JC, Hanis CL, McKeon C, Mohlke KL, Seielstad M, Wilson JG, Atzmon G, Below JE, Dupuis J, Nicolae DL, Lehman D, Park T, Won S, Sladek R, Altshuler D, McCarthy MI, Duggirala R, Boehnke M, Frayling TM, Abecasis GR, Blangero J
(2018) Proc Natl Acad Sci U S A 115: 379-384
MeSH Terms: Diabetes Mellitus, Type 2, Family Health, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Genotype, Humans, Male, Mexican Americans, Pedigree, Phenotype, Quantitative Trait Loci, Whole Genome Sequencing
Added March 15, 2018
0 Communities
1 Members
0 Resources
15 MeSH Terms