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Medical genomics: The intricate path from genetic variant identification to clinical interpretation

Medical genomics: The intricate path from genetic variant identification to clinical interpretation

http://www.wikidata.org/entity/Q26824974

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DNA Sequence Analysis in Clinical Medicine, Proceeding Cautiously.Genomic diagnosis for children with intellectual disability and/or developmental delay Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder.Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants.Ethical considerations surrounding germline next-generation sequencing of children with cancer.InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines Rapid functional analysis of computationally complex rare human IRF6 gene variants using a novel zebrafish model.No Panacea: Next-Gen Sequencing Will Not Mitigate Adoptees' Lack of Genetic Family Health History.Dynamic Causal Modelling of Dynamic Dysfunction in NMDA-Receptor Antibody Encephalitis A Bayesian framework for efficient and accurate variant prediction

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Medical genomics: The intricate path from genetic variant identification to clinical interpretation

http://www.wikidata.org/entity/Q26824974

description

2014 nî lūn-bûn

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2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի սեպտեմբերին 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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2014年论文

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Medical genomics: The intricat ...... ion to clinical interpretation

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Medical genomics: The intricat ...... ion to clinical interpretation

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Medical genomics: The intricat ...... ion to clinical interpretation

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Medical genomics: The intricat ...... ion to clinical interpretation

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Medical genomics: The intricat ...... ion to clinical interpretation

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Medical genomics: The intricat ...... ion to clinical interpretation

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J.ATG.2014.06.001

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Applied & translational genomics

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Medical genomics: The intricat ...... ion to clinical interpretation

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A. Ordóñez-Ugalde

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B. Quintáns

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M.J. Sobrido

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Personalized medicine: hope or hype?

Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation

Spread of an inactive form of caspase-12 in humans is due to recent positive selection.

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Rate of de novo mutations and the importance of father's age to disease risk

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

Bacterial adaptation through loss of function

Guidelines for investigating causality of sequence variants in human disease

Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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60-7

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scholarly article

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10.1016/J.ATG.2014.06.001

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3

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3

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Angel Carracedo

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2014-09-01T00:00:00Z

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263164179

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