Improved exome prioritization of disease genes through cross-species phenotype comparison - Wikidata - wikimedia - TriplyDB

Improved exome prioritization of disease genes through cross-species phenotype comparison

Improved exome prioritization of disease genes through cross-species phenotype comparison

http://www.wikidata.org/entity/Q23815226

about

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease Unification of multi-species vertebrate anatomy ontologies for comparative biology in Uberon Capturing phenotypes for precision medicine Novel bioinformatic developments for exome sequencing The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges Advances in understanding - genetic basis of intellectual disability Phenotype-driven strategies for exome prioritization of human Mendelian disease genes.Disease insights through cross-species phenotype comparisons The Human Phenotype Ontology in 2017 The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species Challenges of Identifying Clinically Actionable Genetic Variants for Precision Medicine Explorations to improve the completeness of exome sequencing The Matchmaker Exchange: a platform for rare disease gene discovery Patient Mutation Directed shRNA Screen Uncovers Novel Bladder Tumor Growth Suppressors.SDS, a structural disruption score for assessment of missense variant deleteriousness.Phenotype ontologies and cross-species analysis for translational research Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine Prioritizing genes for X-linked diseases using population exome data.A pipeline combining multiple strategies for prioritizing heterozygous variants for the identification of candidate genes in exome datasets Prioritization Of Nonsynonymous Single Nucleotide Variants For Exome Sequencing Studies Via Integrative Learning On Multiple Genomic Data.Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.PHENOstruct: Prediction of human phenotype ontology terms using heterogeneous data sources An integer programming framework for inferring disease complexes from network data.Fusing literature and full network data improves disease similarity computation.Global inference of disease-causing single nucleotide variants from exome sequencing data A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.Thematic series on biomedical ontologies in JBMS: challenges and new directions.Semantic prioritization of novel causative genomic variants Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.Using association rule mining to determine promising secondary phenotyping hypotheses PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases Use of model organism and disease databases to support matchmaking for human disease gene discovery.Non-Coding Loss-of-Function Variation in Human Genomes.The influence of disease categories on gene candidate predictions from model organism phenotypes.RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.Jannovar: a java library for exome annotation.Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere's disease.Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.Finding our way through phenotypes.A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

P2860

Q21819337-E677AFC4-4896-49BF-9A08-650E6B3434BC Q22001246-8C406766-4FB7-41B1-A7C2-9C3B12A4F418 Q23815245-BB59C7B0-3535-45FB-B0B5-50C9F5D3FFA7 Q24658618-A0B50FF1-5707-4671-98A1-261F65BEBD34 Q26738380-B0660D16-2458-419B-AA42-DD1ED6117AD9 Q26748977-8E482AF4-5ACC-47EB-9477-089BDF564014 Q26801094-6A879210-8D09-4DB9-8ECF-C772E7F9523C Q26998575-70BBFF24-275D-4BC0-9223-90EBD9080DEB Q27927007-8B90C9CC-74DF-4F9C-9338-2CDE236A2581 Q28584446-E1196E20-AF96-482F-9A2C-023E053FBDEA Q28596030-66CDDB87-D0C2-4868-8A13-29CD2A27E76A Q28596922-7BCFCC7F-1C41-4376-A7FD-AB3655B17CC4 Q28610742-AC0C1B41-ACD1-41B0-B46E-E2FDB4AF14C3 Q30279180-84A38C16-FC56-49F5-B1FA-A56C750C278D Q30362211-B497C6C7-0AA7-44E6-A5FD-ECFAEDC5DF84 Q30440406-EBCEA7BB-D0ED-48F9-BC96-0FB384D4165B Q30839807-43669E02-05D8-4532-93BD-61C3E56CC078 Q30850994-B8253F07-D584-4F44-9741-77EC42CD8ACA Q30852636-26E23A83-B006-4D93-81D5-577BA4DC2064 Q31004569-4F03D8E5-0ADF-4DE2-9CC2-5F216063A54A Q31022262-F3C5E4D4-0AF9-4344-BE36-F8F88C379C86 Q31042106-E9DE561B-2072-4766-9238-3DB59AD86CC0 Q31108429-E850C5E0-A6E4-4431-8D20-AA62C86382C3 Q31125720-0F706721-AEBB-4040-98CB-E92C14462107 Q31159221-36D419D8-879D-46B7-9A08-115C9B6D988E Q33430459-A99E5EF8-F205-435E-961B-26D8A8DEBD92 Q33551860-AE1AC20E-9631-4794-86AE-0C69BEB57648 Q33620978-3B2A266A-DD0F-4858-A7E5-B68ADB65F9FD Q33729428-33C9A885-D9DC-4D3B-A5B6-B74571BA77A4 Q33760921-7576D453-A832-4ED2-9E6B-783D440C7DAE Q33787699-014D7F47-3C1E-494C-AB07-1383AC477FB4 Q33806132-A18057C1-7235-4A36-9D46-8E356042062B Q33878483-1396EAB8-D792-4B35-9FDB-F2A9B95FF15A Q33941938-A6D5E6A8-A15A-4B3A-AF28-99F05B953A09 Q34011881-8423DE8F-75D7-4E34-8D1C-A67922CE31B7 Q34412573-9897AF24-2CBB-4A08-8F23-5B73642273FE Q34442951-934C6BB5-EAE9-4282-9865-2189F8DBB219 Q34456701-41CD6318-40C0-42B1-979D-E59D8930A263 Q34846186-862E9E88-221C-4591-9333-94CE971035DE Q35072646-9431DFDD-03EA-4E90-AAC4-27EC5B88F526

P2860

Improved exome prioritization of disease genes through cross-species phenotype comparison

http://www.wikidata.org/entity/Q23815226

description

2014 nî lūn-bûn

@nan

2014 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

Improved exome prioritization of disease genes through cross-species phenotype comparison

@ast

Improved exome prioritization of disease genes through cross-species phenotype comparison

@en

Improved exome prioritization of disease genes through cross-species phenotype comparison

@en-gb

Improved exome prioritization of disease genes through cross-species phenotype comparison

@nl

type

label

Improved exome prioritization of disease genes through cross-species phenotype comparison

@ast

Improved exome prioritization of disease genes through cross-species phenotype comparison

@en

Improved exome prioritization of disease genes through cross-species phenotype comparison

@en-gb

Improved exome prioritization of disease genes through cross-species phenotype comparison

@nl

prefLabel

Improved exome prioritization of disease genes through cross-species phenotype comparison

@ast

Improved exome prioritization of disease genes through cross-species phenotype comparison

@en

Improved exome prioritization of disease genes through cross-species phenotype comparison

@en-gb

Improved exome prioritization of disease genes through cross-species phenotype comparison

@nl

P1433

Q23815226-BD0D5D16-A377-49CB-9CDC-6869300B6473

P1476

Q23815226-FCC15BDF-5453-4D32-8046-00CEDF0A8C09

P2093

Q23815226-CD37A0A4-DA5D-4E5B-9F20-DF0F824F6D13

Q23815226-E2CE9128-DEDB-4059-8B09-0FF4E43B8328

Q23815226-EEDFC590-F395-492D-ADE9-82990E26D33A

P2860

Q23815226-0DDF6DCA-CAA8-48DF-B4E9-3A6752D34A7C

Q23815226-0FCB207C-D64A-45E1-BE92-6224B4FAAF87

Q23815226-13F63AF6-8BCC-44CE-B85E-17E7A2BABABF

Q23815226-151E7C26-A226-4720-A951-D36A7A392E41

Q23815226-17D4B558-9BB5-49B8-8F92-114A4F3359CE

Q23815226-1A4AFEE8-3962-496E-8494-75BD6CC84F37

Q23815226-1DF90095-5D4F-47C0-996F-A6E0134549F4

Q23815226-27CF561E-B415-4E36-9E5D-986CF6A3847F

Q23815226-2D51B291-01BF-404F-ADD1-E4294D1B171E

Q23815226-3B47F012-ABFA-4894-A453-BE7FC2DFDB4C

P304

Q23815226-3427E02B-A11A-4578-9FE5-5916EBBAAF67

P31

Q23815226-AEDC0FEA-5B86-4E32-8861-8732C1EB1006

P3181

Q23815226-1CA2B7DA-C772-4C42-947C-2BF7508DFE8A

P356

Q23815226-A0C6CD80-7AD6-4118-AF13-DE939E5F9755

P407

Q23815226-530B0ECC-BB1C-4BE5-BF03-00412FA2181F

P433

Q23815226-856A3C29-AD36-4C20-B519-42F5A0117C80

P478

Q23815226-71A74E1F-D50B-40A9-A56C-1AB5FA8E22DA

P50

Q23815226-02EE0F55-E648-46F4-A412-43E6A167BDCD

Q23815226-0FDB26B8-5890-43F5-B598-1624DDFF1CE1

Q23815226-1BDC1813-F771-461A-97E9-57F514EB6D0D

Q23815226-451097D1-5831-4AE0-8628-837F9E19CE3B

Q23815226-8ED6DD5F-FE61-4525-B344-20D96049EB3E

Q23815226-B73D009D-7206-471F-9462-8AF55979E5EA

Q23815226-CD1E4A46-5240-460C-9710-8E75BFFB74D2

Q23815226-E95D90A9-E86B-4C09-8AED-30A529114A9E

Q23815226-EA5B37F5-86B7-45B9-8617-5C3CF2E79F29

Q23815226-FDA943C3-AD1F-4E6A-843F-4D33FAE2DCF2

P577

Q23815226-E9B09B2B-D208-4768-9DC1-F5E71A17DBC8

P698

Q23815226-7B6FE31F-E070-4127-BC05-263E2B0E9B63

P932

Q23815226-D68C609B-CAAD-4999-BDC8-216889145E6E

P3181

P356

P1433

Genome Research

P1476

Improved exome prioritization of disease genes through cross-species phenotype comparison

@en

P2093

Kai Wang

http://www.w3.org/2001/XMLSchema#string

Sebastian Bauer

http://www.w3.org/2001/XMLSchema#string

Suzanna E Lewis

http://www.w3.org/2001/XMLSchema#string

P2860

Linking human diseases to animal models using ontology-based phenotype annotation

Uberon, an integrative multi-species anatomy ontology

Integrative annotation of variants from 1092 humans: application to cancer genomics

An integrated map of genetic variation from 1,092 human genomes

Integrating phenotype ontologies across multiple species

Exome sequencing identifies the cause of a mendelian disorder

dbSNP: the NCBI database of genetic variation

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Mouse large-scale phenotyping initiatives: overview of the European Mouse Disease Clinic (EUMODIC) and of the Wellcome Trust Sanger Institute Mouse Genetics Project

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

P304

340-8

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P3181

535442

http://www.w3.org/2001/XMLSchema#string

P356

10.1101/GR.160325.113

http://www.w3.org/2001/XMLSchema#string

P407

P433

2

http://www.w3.org/2001/XMLSchema#string

P478

24

http://www.w3.org/2001/XMLSchema#string

P50

Melissa Haendel

Christian Gilissen

Sebastian Köhler

Nicole L Washington

P577

2014-02-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

24162188

http://www.w3.org/2001/XMLSchema#string

P932

3912424

http://www.w3.org/2001/XMLSchema#string