Validating gene-phenotype associations using relationships in the UMLS
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Lukas Habegger | Suganthi Balasubramanian | Michael N Cantor | Andrew L Blumenfeld | Claudia Gonzaga-Jauregui | Deepika Sharma | Ashish Yadav | Shareef Khalid | Jeffrey G Reid | Jeffrey Staples | S. Balasubramanian | M. Cantor | L. Habegger | J. Staples | S. Khalid | A. Yadav | D. Sharma | J. Reid | C. Gonzaga‐Jauregui
[1] S. Henikoff,et al. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm , 2009, Nature Protocols.
[2] Stephen B. Soumerai,et al. Missing clinical and behavioral health data in a large electronic health record (EHR) system , 2016, J. Am. Medical Informatics Assoc..
[3] W. Kibbe,et al. Annotating the human genome with Disease Ontology , 2009, BMC Genomics.
[4] Olivier Bodenreider,et al. The Unified Medical Language System (UMLS): integrating biomedical terminology , 2004, Nucleic Acids Res..
[5] Thomas C. Wiegers,et al. Generating Gene Ontology-Disease Inferences to Explore Mechanisms of Human Disease at the Comparative Toxicogenomics Database , 2016, PloS one.
[6] V. McKusick. Mendelian Inheritance in Man and Its Online Version, OMIM , 2007, The American Journal of Human Genetics.
[7] L. Brown,et al. Interval Estimation for a Binomial Proportion , 2001 .
[8] Martin Odersky,et al. An Overview of the Scala Programming Language , 2004 .
[9] Susan Tweedie,et al. Genenames.org: the HGNC and VGNC resources in 2017 , 2016, Nucleic Acids Res..
[10] P. Stenson,et al. Human Gene Mutation Database (HGMD®): 2003 update , 2003, Human mutation.
[11] Olivier Bodenreider,et al. GenesTrace: Phenomic Knowledge Discovery via Structured Terminology , 2004, Pacific Symposium on Biocomputing.
[12] Adi V. Gundlapalli,et al. Exploiting the UMLS Metathesaurus for extracting and categorizing concepts representing signs and symptoms to anatomically related organ systems , 2015, J. Biomed. Informatics.
[13] Csongor Nyulas,et al. BioPortal: enhanced functionality via new Web services from the National Center for Biomedical Ontology to access and use ontologies in software applications , 2011, Nucleic Acids Res..
[14] Jana Marie Schwarz,et al. MutationTaster2: mutation prediction for the deep-sequencing age , 2014, Nature Methods.
[15] Yutaka Saito,et al. Detection of differentially methylated regions from bisulfite-seq data by hidden Markov models incorporating genome-wide methylation level distributions , 2015, BMC Genomics.
[16] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[17] Reynold Xin,et al. GraphFrames: an integrated API for mixing graph and relational queries , 2016, GRADES '16.
[18] Marylyn D. Ritchie,et al. Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study , 2016, Science.
[19] Justin C. Fay,et al. Identification of deleterious mutations within three human genomes. , 2009, Genome research.
[20] O. Gottesman,et al. Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort , 2019, Diabetes.
[21] Rachel Thompson,et al. A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era , 2018, Orphanet Journal of Rare Diseases.
[22] Deanna M. Church,et al. ClinVar: public archive of relationships among sequence variation and human phenotype , 2013, Nucleic Acids Res..
[23] Richard Bonneau,et al. BioNetBuilder2.0: bringing systems biology to chicken and other model organisms , 2009, BMC Genomics.
[24] Rui Jiang,et al. Pinpointing disease genes through phenomic and genomic data fusion , 2015, BMC Genomics.
[25] Matthew S. Lebo,et al. Electronic Health Record Phenotype in Subjects with Genetic Variants Associated with Arrhythmogenic Right Ventricular Cardiomyopathy: A Study in 30,716 Subjects with Exome Sequencing , 2017, Genetics in Medicine.
[26] George Hripcsak,et al. Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes. , 2018, American journal of human genetics.