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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 10 of 68

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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
Discovery of rare coding variants in OGDHL and BRCA2 in relation to breast cancer risk in Chinese women.
Guo X, Long J, Chen Z, Shu XO, Xiang YB, Wen W, Zeng C, Gao YT, Cai Q, Zheng W
(2020) Int J Cancer 146: 2175-2181
MeSH Terms: Adult, Aged, BRCA2 Protein, Breast Neoplasms, Case-Control Studies, China, Databases, Genetic, Female, Gene Frequency, Genetic Predisposition to Disease, Humans, Ketoglutarate Dehydrogenase Complex, Middle Aged, Mutation, Missense, Whole Exome Sequencing
Added March 3, 2020
0 Communities
1 Members
0 Resources
15 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
SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus.
Jin SC, Furey CG, Zeng X, Allocco A, Nelson-Williams C, Dong W, Karimy JK, Wang K, Ma S, Delpire E, Kahle KT
(2019) Mol Genet Genomic Med 7: e892
MeSH Terms: Animals, Cerebral Aqueduct, Genetic Diseases, X-Linked, Humans, Hydrocephalus, Male, Mutation, Neural Cell Adhesion Molecule L1, Symporters, Whole Exome Sequencing, Xenopus laevis
Added March 18, 2020
0 Communities
1 Members
0 Resources
11 MeSH Terms
scRNABatchQC: multi-samples quality control for single cell RNA-seq data.
Liu Q, Sheng Q, Ping J, Ramirez MA, Lau KS, Coffey RJ, Shyr Y
(2019) Bioinformatics 35: 5306-5308
MeSH Terms: Quality Control, RNA-Seq, Sequence Analysis, RNA, Software, Transcriptome, Whole Exome Sequencing
Added March 3, 2020
0 Communities
1 Members
0 Resources
6 MeSH Terms
Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels.
Tin A, Li Y, Brody JA, Nutile T, Chu AY, Huffman JE, Yang Q, Chen MH, Robinson-Cohen C, Macé A, Liu J, Demirkan A, Sorice R, Sedaghat S, Swen M, Yu B, Ghasemi S, Teumer A, Vollenweider P, Ciullo M, Li M, Uitterlinden AG, Kraaij R, Amin N, van Rooij J, Kutalik Z, Dehghan A, McKnight B, van Duijn CM, Morrison A, Psaty BM, Boerwinkle E, Fox CS, Woodward OM, Köttgen A
(2018) Nat Commun 9: 4228
MeSH Terms: Exome, Genetic Predisposition to Disease, Glucose Transport Proteins, Facilitative, Humans, Kidney Function Tests, Meta-Analysis as Topic, Organic Anion Transporters, Organic Cation Transport Proteins, Protein Structure, Secondary, Uric Acid
Added January 3, 2019
0 Communities
1 Members
0 Resources
MeSH Terms
Comprehensive Analysis of Alternative Splicing Across Tumors from 8,705 Patients.
Kahles A, Lehmann KV, Toussaint NC, Hüser M, Stark SG, Sachsenberg T, Stegle O, Kohlbacher O, Sander C, Cancer Genome Atlas Research Network, Rätsch G
(2018) Cancer Cell 34: 211-224.e6
MeSH Terms: Alternative Splicing, Humans, Neoplasms, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Sequence Analysis, RNA, Whole Exome Sequencing
Added October 30, 2019
0 Communities
1 Members
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MeSH Terms
Exome Sequencing Identifies Genetic Variants Associated with Circulating Lipid Levels in Mexican Americans: The Insulin Resistance Atherosclerosis Family Study (IRASFS).
Gao C, Tabb KL, Dimitrov LM, Taylor KD, Wang N, Guo X, Long J, Rotter JI, Watanabe RM, Curran JE, Blangero J, Langefeld CD, Bowden DW, Palmer ND
(2018) Sci Rep 8: 5603
MeSH Terms: Adult, Apolipoprotein A-V, Atherosclerosis, Carrier Proteins, Female, Genetic Linkage, Genetic Variation, Genome-Wide Association Study, Humans, Insulin Resistance, Lipids, Lipoproteins, HDL, Mexican Americans, Middle Aged, Polymorphism, Single Nucleotide, Triglycerides, Whole Exome Sequencing
Added April 10, 2018
0 Communities
1 Members
0 Resources
17 MeSH Terms
Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines.
Ellrott K, Bailey MH, Saksena G, Covington KR, Kandoth C, Stewart C, Hess J, Ma S, Chiotti KE, McLellan M, Sofia HJ, Hutter C, Getz G, Wheeler D, Ding L, MC3 Working Group, Cancer Genome Atlas Research Network
(2018) Cell Syst 6: 271-281.e7
MeSH Terms: Algorithms, Exome, Genomics, High-Throughput Nucleotide Sequencing, Humans, Information Dissemination, Mutation, Neoplasms, Sequence Analysis, DNA, Software, Whole Exome Sequencing
Added October 30, 2019
0 Communities
1 Members
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MeSH Terms
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.
Bastarache L, Hughey JJ, Hebbring S, Marlo J, Zhao W, Ho WT, Van Driest SL, McGregor TL, Mosley JD, Wells QS, Temple M, Ramirez AH, Carroll R, Osterman T, Edwards T, Ruderfer D, Velez Edwards DR, Hamid R, Cogan J, Glazer A, Wei WQ, Feng Q, Brilliant M, Zhao ZJ, Cox NJ, Roden DM, Denny JC
(2018) Science 359: 1233-1239
MeSH Terms: DNA Mutational Analysis, Databases, Genetic, Electronic Health Records, Exome, Genetic Association Studies, Genetic Diseases, Inborn, Genetic Predisposition to Disease, Genetic Variation, Humans, Phenotype, Risk Factors
Added March 24, 2020
0 Communities
1 Members
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MeSH Terms