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The Overlook on Neuro-Genomics: Review

Rajavarman kittu, Anuja Mishra

Abstract


Neuro-Genomics is where all the neurology cases with hereditary traits are getting diagnosed though the modern laboratory medicine techniques. It is very important to know about Human body and its complication neuro structure including the genetic components with respect to hereditary patterns and traits. The impact of 1000 genome project is very significant, since the switch between the genetics to genomics screening came to daily practice in clinical world. In this article we are discussing about the utility of next generation sequencing, databases of common, complex and rare genetic alterations captured in hereditary conditions from neurology cases across the globe.


Keywords


Neuro-genomics, neurons, chromosome, mutations, next-generation sequencing

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References


Xiangqun Zheng-Bradley, Paul Flicek. Applications of the 1000 Genomes Project resources.2017;16(3):163–170.

Devuyst O. The 1000 genomes project: Welcome to a new world. Perit Dial Int. 2015;35:676–7.

Van El CG, Cornel MC, Borry P, et al Whole-genome sequencing in health care. European Journal of Human Genetics. 2013 ;21(6):580–4.

Wu J, Wu M, Chen T, Jiang R. Whole genome sequencing and its applications in medical genetics. Quantitative Biology. 2016 ;4(2):115–28.

Human genome variance society, (2019, June). Available from https://www.hgvs.org/

NIH. dvbr. Available from https://www.ncbi.nlm.nih.gov/dbvar/

DGVa (2019). Database of Genomic Variant Archive. Available from ebi.ac.uk/dgva/

gnomAD (2021). genomAD browser Available from https://gnomad.broadinstitute.org/

Mastermind Genomics Search Engine. Genomenon Available from https://www.genomenon.com/mastermind/

National Library of Medicine. NCBI Available from https://www.ncbi.nlm.nih.gov/clinvar/

National Library of Medicine. NCBI Available from https://www.ncbi.nlm.nih.gov/snp/

Leiden open variation database. Available from https://www.lovd.nl/

ANNOVAR Documentation (2022, Aug) Available from https://annovar.openbioinformatics.org/en/latest/

The Human Genome Database (2007) Available from https://www.hgmd.cf.ac.uk/ac/index.php

Rodrigues ED, Griffith S, Martin R,et al . Variant‐level matching for diagnosis and discovery: Challenges and opportunities. Human mutation. 2022 ;43(6):782–90.

Sobreira MNL, Hamosh A. Next‐generation sequencing and the evolution of data sharing. American Journal of Medical Genetics Part A. 2021 ;185(9):2633–5.

Casto C, Dipasquale V, Ceravolo I. Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome. Brain Sciences. 2021 ;11(9):1150.


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