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The tale of two genes- from next generation sequencing to phenotype

Cold Spring Harbor Molecular Case Studies

Jan 24, 2020

Mersedeh RohanizadeganOlaf Bodamer

Abstract

An 18 year old man with a history of intellectual disability, cranio-facial dysmorphism, seizure disorder and obesity was identified to carry a de novo, pathogenic variant in the ASXL1 gene (c.4198G>T; p.E1400X) associated with a diagnosis of Bohring Opitz syndrome using whole exome seq...read more

Mentioned in this Paper

Obesity
Protein Expression
Male Population Group
Seizures
Medical History
Pillar Cell
Disease Management
Diagnosis
Individualized Medicine
Bohring Syndrome
3
Paper Details
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The tale of two genes- from next generation sequencing to phenotype

Cold Spring Harbor Molecular Case Studies

Jan 24, 2020

Mersedeh RohanizadeganOlaf Bodamer

PMID: 31969346

DOI: 10.1101/mcs.a004846

Abstract

An 18 year old man with a history of intellectual disability, cranio-facial dysmorphism, seizure disorder and obesity was identified to carry a de novo, pathogenic variant in the ASXL1 gene (c.4198G>T; p.E1400X) associated with a diagnosis of Bohring Opitz syndrome using whole exome seq...read more

Mentioned in this Paper

Obesity
Protein Expression
Male Population Group
Seizures
Medical History
Pillar Cell
Disease Management
Diagnosis
Individualized Medicine
Bohring Syndrome
3

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Comparative Sequencing

Inter/Intra-Species: Comparative Sequencing describes the sequencing techniques that compare between and within species genomes. Discover the latest research on comparative sequencing of inter/intra-species here.

Precision Medicine

Precision medicine is a medical model that proposes the customization of healthcare, with medical decisions, treatments, practices, or products being tailored to the patient traits and specific molecular features of disease processes. In this model, diagnostic testing is often employed for selecting appropriate and optimal therapies based on the context of a patient’s genetic content or other molecular or cellular analysis. Tools employed in precision medicine can include molecular diagnostics, imaging, and analytics

Related Papers

Clinical Case Reports

Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient

Clinical Case ReportsJanuary 2, 2020
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