Special Issue "Diagnosis of Neurogenetic Disorders: Contribution of Next Generation Sequencing and Deep Phenotyping"
Deadline for manuscript submissions: 1 February 2019
Dr. Alisdair McNeill
Senior Clinical Research Fellow, Sheffield Institute for Translational Neuroscience, Department of Neuroscience, University of Sheffield, 385a Glossop Road, Sheffield, S10 2HQ, UK
Honrorary Consultant in Clinical Genetics, Sheffield Children’s NHS Foundation Trust
Website | E-Mail
Interests: neurogenetics; deep phenotyping; next generation sequencing; qualitative studies; rare disease
The contribution of genomic variants to the aetiopathogenesis of both paediatric and adult neurological disease is increasingly recognised. The use of next generation sequencing has led to the discovery of novel neurodevelopmental disorders, as exemplified by the Deciphering Developmental Disorders (DDD) study, and provided insight into the aetiopathogenesis of common adult neurological diseases. Despite these advances, many challenges remain. Correctly classifying the pathogenicity of genomic variants from amongst the large number of variants identified by next generation sequencing is recognised as perhaps the major challenge facing the field. Deep phenotyping (e.g., imaging, movement analysis) techniques can aid variant interpretation by correctly classifying individuals as affected or unaffected for segregation studies. The lack of information on the clinical phenotype of novel genetic subtypes of neurological disease creates limitations for Genetic Counselling. Both deep phenotyping and qualitative studies can capture the clinical and patient’s perspective on a disease and provide valuable information. This Special Issue aims to highlight how next generation sequencing techniques have revolutionised our understanding of the aetiology of brain disease and describe the contribution of deep phenotyping studies to variant interpretation and understanding of natural history.
Dr. Alisdair McNeill
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Brain Sciences is an international peer-reviewed open access monthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 850 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
- Next generation sequencing
- Deep phenotyping
- Rare disease