A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk
about
The Human Phenotype Ontology: Semantic Unification of Common and Rare DiseaseBig data for bipolar disorder.Improving medical students' knowledge of genetic disease: a review of current and emerging pedagogical practicesMoving from capstones toward cornerstones: successes and challenges in applying systems biology to identify mechanisms of autism spectrum disordersCurrent strategies for mutation detection in phenotype-driven screens utilising next generation sequencingMendelian randomization: genetic anchors for causal inference in epidemiological studiesThe Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesThe impact of human copy number variation on gene expressionApplying the ARRIVE Guidelines to an In Vivo DatabaseMolecularly and clinically related drugs and diseases are enriched in phenotypically similar drug-disease pairsInvestigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic reviewNews from the NIH: potential contributions of the behavioral and social sciences to the precision medicine initiativeSurveying Recent Themes in Translational Bioinformatics: Big Data in EHRs, Omics for Drugs, and Personal GenomicsThe human disease network in terms of dysfunctional regulatory mechanismsEvolutionary signatures amongst disease genes permit novel methods for gene prioritization and construction of informative gene-based networksBig data in medicine is driving big changesQuantifying the impact and extent of undocumented biomedical synonymyNetwork biology concepts in complex disease comorbiditiesTemporal disease trajectories condensed from population-wide registry data covering 6.2 million patientsData-driven discovery of seasonally linked diseases from an Electronic Health Records system.Depression-like episodes in mice harboring mtDNA deletions in paraventricular thalamusQuantification of diabetes comorbidity risks across life using nation-wide big claims data[Big data, medical language and biomedical terminology systems].Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment'Particle genetics': treating every cell as unique.Serum calcium and risk of migraine: a Mendelian randomization studyProperties of human disease genes and the role of genes linked to Mendelian disorders in complex disease aetiology.Reading and language disorders: the importance of both quantity and quality.Variant adiponutrin confers genetic protection against cholestatic itchIdentifying novel interventional strategies for psychiatric disorders: integrating genomics, 'enviromics' and gene-environment interactions in valid preclinical models.Mining cancer-specific disease comorbidities from a large observational health databaseModules, networks and systems medicine for understanding disease and aiding diagnosis.Building the graph of medicine from millions of clinical narratives.Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorderGenetic similarity between cancers and comorbid Mendelian diseases identifies candidate driver genes.Case-only exome sequencing and complex disease susceptibility gene discovery: study design considerations.Disease Comorbidity Network Guides the Detection of Molecular Evidence for the Link Between Colorectal Cancer and Obesity.DNetDB: The human disease network database based on dysfunctional regulation mechanismPredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.Comparative analyses of population-scale phenomic data in electronic medical records reveal race-specific disease networks
P2860
Q21819337-99CAAE34-5A0F-406C-9030-1C1A85E8CF96Q26749257-4B6F2F4A-F83A-480A-BFCD-7BEA7C2A9DF7Q26775821-1BDCEA45-CBF4-46B2-8644-0566FC742C26Q26779153-8259667D-8724-4122-B430-15F87E1D5CC5Q26785773-05C0B882-1F87-4E13-AF3D-B3A09E1906B6Q27002487-C28CE4B1-5D22-403D-899E-ED1DDE12C502Q27014740-EECA3821-3311-413B-84DA-1D13A41F0F3EQ27027474-4A26C57C-3CF9-4C50-BF4B-26B9089162EEQ27312051-0DFA75B0-6149-4E7A-83CA-AE8B6E5A0C90Q27499827-36C4730D-D200-4EEE-8D11-B30FE3E9F445Q28078252-068FAE8F-C8A3-4B79-A608-5118FC0BCC19Q28385820-A71AF176-4000-44D1-89CE-6DAF02C0BA2BQ28542977-D47DF81E-ECB1-4998-9539-8340B51951AAQ28550156-6DDF648F-3443-4C25-8C44-11D8091103F3Q28649688-B5A7025F-ECA7-479A-A4C5-B36F69A002D5Q28652529-B6D5ABC0-F5C7-472A-86FA-8FB4D41F9109Q28655357-57641383-D880-4EFF-A4FC-4ED75397831EQ29091067-97E8252A-A03E-4781-AB36-D92973BD71DAQ30002373-1CD33712-4A01-42BE-A988-8518D6A072A6Q30839792-3C8A7FB1-602C-47B6-AA4D-BA6A20596D70Q30847548-C1249236-9411-4153-A567-572D5F290E51Q30927990-2F9059ED-A9D1-42E5-A4A0-5BBCA5708A38Q30972416-48600258-7A4E-4524-AEF8-8019C7CA70FFQ33601252-C5ACB4D4-36B2-4525-8767-90F90729227BQ33606185-3A242332-976F-402E-A3A5-DF821521ED58Q33614592-D73A1EB0-5458-4D00-B476-2151F29E8ECDQ33614650-78A992AD-2690-46A9-8B52-F11AEAE85583Q33891684-006B7C28-AB43-4560-999A-8528E468E5DFQ34309870-BF0835DE-88FE-4354-B2A7-F61CC5587F27Q34407170-485D2370-A992-46F2-B771-0E85A189BCF2Q34434844-D137B58C-059A-4C6B-B648-50ED0958B759Q34624769-6C635DA0-8892-435B-9C7F-5F3D6A9213BFQ35066515-B656C1CE-E9EA-494C-89F8-25FA7E788E85Q35246537-0F2ABC7E-549F-43BA-A2A9-A24DADE66883Q35559086-9C2ACC4F-7304-4F82-97C5-674643C33A7DQ35854930-71F9B63B-CFD8-489C-B540-EF0C2F2E4710Q35917229-371588F0-2434-4E3F-8297-254FE33CBAEBQ36025424-C5355B73-ACCF-4A93-959A-D84F66719996Q36029474-E674E03C-AE97-480A-A36F-4D28B02CA162Q36053748-FC654003-276F-48D3-B5A7-803895DE66B8
P2860
A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk
description
2013 nî lūn-bûn
@nan
2013 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
A Nondegenerate Code of Delete ...... ibutes to Complex Disease Risk
@ast
A Nondegenerate Code of Delete ...... ibutes to Complex Disease Risk
@en
type
label
A Nondegenerate Code of Delete ...... ibutes to Complex Disease Risk
@ast
A Nondegenerate Code of Delete ...... ibutes to Complex Disease Risk
@en
prefLabel
A Nondegenerate Code of Delete ...... ibutes to Complex Disease Risk
@ast
A Nondegenerate Code of Delete ...... ibutes to Complex Disease Risk
@en
P2093
P2860
P50
P3181
P1433
P1476
A nondegenerate code of delete ...... ibutes to complex disease risk
@en
P2093
Anders Boeck Jensen
Charles F Bearden
Christopher S Lyttle
Elmer V Bernstam
Jonathan M Mortensen
Kevin P White
Lars Juhl Jensen
Nancy J Cox
Nigam H Shah
P2860
P3181
P356
10.1016/J.CELL.2013.08.030
P407
P50
P577
2013-09-01T00:00:00Z