About: RDAD: A Machine Learning System to Support Phenotype-Based Rare Disease Diagnosis

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scholarly article by Jinmeng Jia et al published 2018 in Frontiers in Genetics

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rdf:type	Item
description	wetenschappelijk artikel (nl) im Januar 2018 veröffentlichter wissenschaftlicher Artikel (de) наукова стаття, опублікована у 2018 (uk) scholarly article by Jinmeng Jia et al published 2018 in Frontiers in Genetics (en)
publication date	wds:Q60046838-770E8D34-F2CB-466A-A158-455EC3318F64
publication date	2018-01-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q60046838-D57B887A-390A-449C-ACD8-DA4AF308F657
language of work or name	English
cites work	wds:Q60046838-08C737D6-D637-4283-8B3D-B15AEB44A962 wds:Q60046838-0ED92811-83EC-4BDE-A410-72A17EA43A96 wds:Q60046838-13514EFE-CE62-4E3F-A726-ADC54EA9C6E1 wds:Q60046838-18EBB2B9-5492-4CDE-9EA8-930E83D443A8 wds:Q60046838-22DDF2AE-1D1C-4E97-A732-A449AC49726D wds:Q60046838-297C8FC7-F97F-477D-ABF6-35FA3C36F292 wds:Q60046838-3DBBF0A0-765D-47B9-B05A-7FEFABC122F5 wds:Q60046838-55C7C81C-D629-4A89-84BA-DDA1A9AC0156 wds:Q60046838-572FBEF5-9253-498C-9856-B40B4C07D0A8 wds:Q60046838-658900D7-ED38-42C8-B7B0-D42A27C6BC6F wds:Q60046838-6B446F9F-83A0-46E2-B3ED-B64CDD809BFE wds:Q60046838-74990AA5-55B6-489F-AEAB-8BDDF7300C7D wds:Q60046838-76689054-8297-4586-A9E5-0F90AB334B2C wds:Q60046838-826A657F-687C-40D0-A772-A3F4F86F45F7 wds:Q60046838-93A9FEAF-8928-4AA9-B131-FB873115CED6 wds:Q60046838-B55EBB62-286F-44C8-B399-ECFC80295FBA wds:Q60046838-B66C1A91-B80A-4C47-92CE-12E323BAF02A wds:Q60046838-B96714EB-1ABB-4C9C-A4F9-70206C84765A wds:Q60046838-C5F896CE-B9F3-46A6-BCF6-44972DAF2174 wds:Q60046838-C67C22AA-69EB-4939-ACAE-C6B28D3EE4B7 wds:Q60046838-D03AE6F7-68BB-4034-8A71-92E0C2C7AF7C wds:Q60046838-DD52ECE2-67E9-4ED1-9DA3-D14C53FC73A3 wds:Q60046838-E0C44AFB-AD9F-42A4-B3A6-0F542C592188 wds:Q60046838-F78E5B41-96F7-4A00-B252-D765902F6125
cites work	OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders Clinical diagnostics in human genetics with semantic similarity searches in ontologies RAMEDIS: a comprehensive information system for variations and corresponding phenotypes of rare metabolic diseases PhenoTips: patient phenotyping software for clinical and research use. DXplain. An evolving diagnostic decision-support system The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources A text-mining analysis of the human phenome FindZebra: A search engine for rare diseases Computer-assisted decision support for the diagnosis and treatment of infectious diseases in intensive care units Phenolyzer: phenotype-based prioritization of candidate genes for human diseases Towards building a disease-phenotype knowledge base: extracting disease-manifestation relationship from literature. Orphan drugs: the regulatory environment Clinical Practice Guidelines for Rare Diseases: The Orphanet Database Towards efficiency in rare disease research: what is distinctive and important? Genome-wide analysis of differential DNA methylation in Silver-Russell syndrome. eRAM: encyclopedia of rare disease annotations for precision medicine. Industrializing rare disease therapy discovery and development. Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome. Harmonising phenomics information for a better interoperability in the rare disease field. Quick medical reference (QMR) for diagnostic assistance. Computer-assisted initial diagnosis of rare diseases PedAM: a database for Pediatric Disease Annotation and Medicine. Iliad: moving medical decision-making into new frontiers.
author name string	wds:Q60046838-144477D1-FE5D-4204-97B5-0A0E0FA8A072 wds:Q60046838-2148D8EB-9AAA-4AEF-99DF-3CC42721BFD7 wds:Q60046838-90A8AD10-F2F4-4BEC-BFE6-86167D9954F2 wds:Q60046838-AC84FC08-3A27-4773-A7A8-34B26EC2E9F9 wds:Q60046838-BBC615DE-4560-456D-B8F3-F1C7348B4E64 wds:Q60046838-D2B91C33-FE37-4928-BFFA-FFBBB2170C60
author name string	Tieliu Shi Yongli Guo Jinmeng Jia Zhongxin An Ruiyuan Wang Xi Ni
rdfs:label	RDAD: A Machine Learning System to Support Phenotype-Based Rare Disease Diagnosis (en) RDAD: A Machine Learning System to Support Phenotype-Based Rare Disease Diagnosis (nl)
skos:prefLabel	RDAD: A Machine Learning System to Support Phenotype-Based Rare Disease Diagnosis (en) RDAD: A Machine Learning System to Support Phenotype-Based Rare Disease Diagnosis (nl)
name	RDAD: A Machine Learning System to Support Phenotype-Based Rare Disease Diagnosis (en) RDAD: A Machine Learning System to Support Phenotype-Based Rare Disease Diagnosis (nl)
title	wds:Q60046838-85792D90-CF86-48D9-A7B8-349C625E8D94
title	RDAD: A Machine Learning System to Support Phenotype-Based Rare Disease Diagnosis (en)
page(s)	wds:Q60046838-8CAEF0CD-0E30-4F17-BEDF-D50DBEC40552
page(s)	587
instance of	wds:Q60046838-82809B69-C5D4-4F2F-B38E-3EDA1CCC5EC4
instance of	scholarly article
main subject	wds:Q60046838-6734B5D1-F9DC-4FB6-B53B-01958A901BF3 wds:Q60046838-73039BA3-C1DC-4A40-B52C-B7AEF4634F21 wds:Q60046838-EFCB5E02-DC01-4D67-9638-2227ED5D5B41
main subject	rare disease machine learning molecular medicine
PubMed ID	wds:Q60046838-68D4AFFB-7730-4777-94A2-5FA59B698C10
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/30564269
PubMed ID	30564269
published in	wds:Q60046838-C6C2A8CF-861C-48CB-9B50-96C603824007
published in	Frontiers in Genetics
volume	wds:Q60046838-3B894D43-5C3D-4C91-99C3-B4F7D5756771
volume	9
DOI	wds:Q60046838-36BAF97C-2C3E-43C2-A868-A182B5ADCAE2
DOI	http://dx.doi.org/10.3389/FGENE.2018.00587
DOI	10.3389/FGENE.2018.00587
copyright license	wds:Q60046838-116e73b4-4c30-4d7a-8fdc-5cfce8599bc1
copyright status	wds:Q60046838-55518097-be5d-4c1f-aba5-f45121cbfd51
copyright license	Creative Commons Attribution 4.0 International

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