The Overlook on Neuro-Genomics: Review

Authors

  • Rajavarman kittu Researcher, Department of Lifesciences, Premas Lifesciences Pvt Ltd, New Delhi, India
  • Anuja Mishra Researcher, Department of Lifesciences, Premas Lifesciences Pvt Ltd, New Delhi, India

Keywords:

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

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.

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.

Downloads

Published

2022-08-30

Issue

Vol. 12 No. 2 (2022)

Section

Review Article

License

Declaration and Copyright Transfer Form

(to be completed by authors)

I/ We, the undersigned author(s) of the submitted manuscript, hereby declare, that the above manuscript which is submitted for publication in the STM Journals(s), is not published already in part or whole (except in the form of abstract) in any journal or magazine for private or public circulation, and, is not under consideration of publication elsewhere.

  • I/We will not withdraw the manuscript after 1 week of submission as I have read the Author Guidelines and will adhere to the guidelines.
  • I/We Author(s ) have niether given nor will give this manuscript elsewhere for publishing after submitting in STM Journal(s).
  • I/ We have read the original version of the manuscript and am/ are responsible for the thought contents embodied in it. The work dealt in the manuscript is my/ our own, and my/ our individual contribution to this work is significant enough to qualify for authorship.
  •  I/We also agree to the authorship of the article in the following order:

Author’s name                                    

 

1. ________________

2. ________________

3. ________________

4. ________________

 

We  Author(s) tick this box and would request you to consider it as our signature as we agree to the terms of this Copyright Notice, which will apply to this submission if and when it is published by this journal.