ClinPhen extracts and prioritizes patient phenotypes directly from medical records to accelerate genetic disease diagnosis
暂无分享,去创建一个
M. Wheeler | G. Bejerano | C. Brownstein | A. Beggs | V. Shashi | K. Schoch | J. Bernstein | J. Birgmeier | E. Bodle | C. A. Deisseroth | J. Kohler | J. Martinez-Agosto | R. Signer | C. Genetti | Heidi Cope | D. Matalon | K. Schmitz-Abe | Rebecca H. Signer | Yelena Nazarenko | H. Cope
[1] G. Bejerano,et al. Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization , 2018, bioRxiv.
[2] George Church,et al. Compelling Reasons for Repairing Human Germlines. , 2017, The New England journal of medicine.
[3] Ewan Birney,et al. Genomics in healthcare: GA4GH looks to 2022 , 2017, bioRxiv.
[4] Gill Bejerano,et al. AMELIE accelerates Mendelian patient diagnosis directly from the primary literature , 2017, bioRxiv.
[5] Deciphering Developmental Disorders Study,et al. Prevalence and architecture of de novo mutations in developmental disorders , 2017, Nature.
[6] Joan,et al. Prevalence and architecture of de novo mutations in developmental disorders , 2017, Nature.
[7] Tudor Groza,et al. The Human Phenotype Ontology in 2017 , 2016, Nucleic Acids Res..
[8] Tudor Groza,et al. The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species , 2016, bioRxiv.
[9] Giorgio Valentini,et al. A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. , 2016, American journal of human genetics.
[10] G. Bejerano,et al. Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers , 2016, Genetics in Medicine.
[11] Matthew N. Bainbridge,et al. A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics , 2016, Genome Medicine.
[12] Domenica Taruscio,et al. Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs. , 2015, Molecular genetics and metabolism.
[13] Damian Smedley,et al. Next-generation diagnostics and disease-gene discovery with the Exomiser , 2015, Nature Protocols.
[14] James Y. Zou. Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.
[15] Gabor T. Marth,et al. A global reference for human genetic variation , 2015, Nature.
[16] Cynna Selvy,et al. Unified Medical Language System (UMLS) , 2015 .
[17] Hui Yang,et al. Phenolyzer: phenotype-based prioritization of candidate genes for human diseases , 2015, Nature Methods.
[18] Peter N. Robinson,et al. The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease , 2015, American journal of human genetics.
[19] François Schiettecatte,et al. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders , 2014, Nucleic Acids Res..
[20] Guo-Qiang Zhang,et al. Complex epilepsy phenotype extraction from narrative clinical discharge summaries , 2014, J. Biomed. Informatics.
[21] Damian Smedley,et al. Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome , 2014, Science Translational Medicine.
[22] P. Ng,et al. Phen-Gen: combining phenotype and genotype to analyze rare disorders , 2014, Nature Methods.
[23] H. Blum,et al. Clinical Interpretation and Implications of Whole Genome Sequencing , 2014 .
[24] Diego Martínez Hernández,et al. Automated semantic annotation of rare disease cases: a case study , 2014, Database J. Biol. Databases Curation.
[25] Hugo Larochelle,et al. PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes , 2014, BMC Medical Genomics.
[26] Brett J. Kennedy,et al. Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families. , 2014, American journal of human genetics.
[27] Euan A Ashley,et al. Clinical interpretation and implications of whole-genome sequencing. , 2014, JAMA.
[28] Damian Smedley,et al. Improved exome prioritization of disease genes through cross-species phenotype comparison , 2014, Genome research.
[29] Stephen B. Johnson,et al. A review of approaches to identifying patient phenotype cohorts using electronic health records , 2013, J. Am. Medical Informatics Assoc..
[30] Mark Yandell,et al. VAAST 2.0: Improved Variant Classification and Disease-Gene Identification Using a Conservation-Controlled Amino Acid Substitution Matrix , 2013, Genetic epidemiology.
[31] Marcel H. Schulz,et al. Bayesian ontology querying for accurate and noise-tolerant semantic searches , 2012, Bioinform..
[32] Joaquín Dopazo,et al. SNPeffect 4.0: on-line prediction of molecular and structural effects of protein-coding variants , 2011, Nucleic Acids Res..
[33] Sunghwan Sohn,et al. Mayo clinical Text Analysis and Knowledge Extraction System (cTAKES): architecture, component evaluation and applications , 2010, J. Am. Medical Informatics Assoc..
[34] H. Hakonarson,et al. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.
[35] Daniel Rios,et al. Bioinformatics Applications Note Databases and Ontologies Deriving the Consequences of Genomic Variants with the Ensembl Api and Snp Effect Predictor , 2022 .
[36] I. Kohane,et al. Electronic medical records for discovery research in rheumatoid arthritis , 2010, Arthritis care & research.
[37] Marcel H. Schulz,et al. Clinical diagnostics in human genetics with semantic similarity searches in ontologies. , 2009, American journal of human genetics.
[38] Tauno Kekäle,et al. Beautiful Code. Leading Programmers Explain How They Think , 2009 .
[39] Mark A. Musen,et al. The Open Biomedical Annotator , 2009, Summit on translational bioinformatics.
[40] Andy Oram,et al. Beautiful Code: Leading Programmers Explain How They Think (Theory in Practice (O'Reilly)) , 2007 .
[41] E. Loper,et al. NLTK: The Natural Language Toolkit , 2006, ACL 2006.
[42] Guo-Qiang Zhang,et al. EpiDEA: Extracting Structured Epilepsy and Seizure Information from Patient Discharge Summaries for Cohort Identification , 2012, AMIA.
[43] Alan R. Aronson,et al. Effective mapping of biomedical text to the UMLS Metathesaurus: the MetaMap program , 2001, AMIA.