DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation - Wikidata - wikimedia - TriplyDB

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

http://www.wikidata.org/entity/Q24567711

about

sameAs

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease Wikidata as a semantic framework for the Gene Wiki initiative Novel bioinformatic developments for exome sequencing Phenotype-driven strategies for exome prioritization of human Mendelian disease genes.Disease insights through cross-species phenotype comparisons The Human Phenotype Ontology in 2017 Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER Ensembl 2015 The 2014 Nucleic Acids Research Database Issue and an updated NAR online Molecular Biology Database Collection.What's that gene (or protein)? Online resources for exploring functions of genes, transcripts, and proteins.Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts.Genomic data sharing for translational research and diagnostics Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data Principle of proportionality in genomic data sharing.PHENOstruct: Prediction of human phenotype ontology terms using heterogeneous data sources Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10 Finding people who will tell you their thoughts on genomics-recruitment strategies for social sciences research Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.Genenames.org: the HGNC resources in 2015 19q13.11 microdeletion concomitant with ins(2;19)(p25.3;q13.1q13.4)dn in a boy: potential role of UBA2 in the associated phenotype Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders.Exome Sequencing in Fetuses with Structural Malformations Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.Systematic identification of phenotypically enriched loci using a patient network of genomic disorders Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.DIDA: A curated and annotated digenic diseases database.Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain.Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors The Ensembl Variant Effect Predictor.Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.Returning genome sequences to research participants: Policy and practice.The challenge for the next generation of medical geneticists.Microarray Technology for the Diagnosis of Fetal Chromosomal Aberrations: Which Platform Should We Use?Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.Human genotype-phenotype databases: aims, challenges and opportunities.Genetics of movement disorders in the next-generation sequencing era.

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DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

http://www.wikidata.org/entity/Q24567711

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2014 nî lūn-bûn

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2014 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2014 թվականի հունվարին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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Nucleic Acids Research

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Eleni A Chatzimichali

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Eugene Bragin

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Helen V Firth

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Matthew E Hurles

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P2860

The Sequence Ontology: a tool for the unification of genome annotations

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

A method and server for predicting damaging missense mutations

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

The UCSC genome browser and associated tools

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scholarly article

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1030013

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10.1093/NAR/GKT937

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Database issue

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42

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Caroline F. Wright

Jawahar Swaminathan

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2013-10-22T00:00:00Z

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258037025

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24150940

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3965078

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