A brief summary of human molecular genetic techniques for clinical psychiatrists

Concerted and systematic efforts to understand genetics of human health and disease over the preceding 60 odd years have witnessed remarkable progress. The incremental gains through this journey were enabled by chromosomal analysis, recombinant deoxyribonucleic acid (DNA) techniques, notable discove...

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Main Authors: Chandra Bhushan Rai, Anirban Mukhopadhyay, Smita N Deshpande, BK Thelma
Format: Article
Language:English
Published: Academy Publisher 2021-01-01
Series:Open Journal of Psychiatry and Allied Sciences
Subjects:
Online Access:https://www.ojpas.com/get_file.php?id=34209994&vnr=398173
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spelling doaj-91f46a52b63346b5bd928f072f7e4e2f2021-01-26T06:42:42ZengAcademy PublisherOpen Journal of Psychiatry and Allied Sciences2394-20532394-20612021-01-01121556110.5958/2394-2061.2021.00010.0A brief summary of human molecular genetic techniques for clinical psychiatristsChandra Bhushan Rai0Anirban Mukhopadhyay1Smita N Deshpande2BK Thelma3Department of Psychiatry, Centre of Excellence in Mental Health, Atal Bihari Vajpayee Institute of Medical Sciences & Dr. Ram Manohar Lohia Hospital, New Delhi-110001, IndiaDepartment of Genetics, University of Delhi South Campus, New Delhi-110021, IndiaDepartment of Psychiatry, Centre of Excellence in Mental Health, Atal Bihari Vajpayee Institute of Medical Sciences & Dr. Ram Manohar Lohia Hospital, New Delhi-110001, IndiaDepartment of Genetics, University of Delhi South Campus, New Delhi-110021, IndiaConcerted and systematic efforts to understand genetics of human health and disease over the preceding 60 odd years have witnessed remarkable progress. The incremental gains through this journey were enabled by chromosomal analysis, recombinant deoxyribonucleic acid (DNA) techniques, notable discovery of single nucleotide polymorphisms following the Human Genome Project, consequent genome-wide variant-based studies, and now whole genome sequencing with ultimate diagnostic potential. Of note, success in prediction and prevention of chromosomal and single gene disorders comprising ~six to eight per cent each of all genetic disorders have been unprecedented but uncovering genetics of common complex disorders conferring ~60% of the genetic disease burden continues to pose a challenge and await new analytical paradigms - a mix of reductionist and organismal biology together with artificial intelligence and machine learning approaches being the current trend. A brief account of this path of progress in medical genetics and genomic insights along with limitations, to achieve the overarching goals of predictive, preventive, personalised, and participatory medicine is presented in this article.https://www.ojpas.com/get_file.php?id=34209994&vnr=398173genegenomicsclinicalmedicine
collection DOAJ
language English
format Article
sources DOAJ
author Chandra Bhushan Rai
Anirban Mukhopadhyay
Smita N Deshpande
BK Thelma
spellingShingle Chandra Bhushan Rai
Anirban Mukhopadhyay
Smita N Deshpande
BK Thelma
A brief summary of human molecular genetic techniques for clinical psychiatrists
Open Journal of Psychiatry and Allied Sciences
gene
genomics
clinical
medicine
author_facet Chandra Bhushan Rai
Anirban Mukhopadhyay
Smita N Deshpande
BK Thelma
author_sort Chandra Bhushan Rai
title A brief summary of human molecular genetic techniques for clinical psychiatrists
title_short A brief summary of human molecular genetic techniques for clinical psychiatrists
title_full A brief summary of human molecular genetic techniques for clinical psychiatrists
title_fullStr A brief summary of human molecular genetic techniques for clinical psychiatrists
title_full_unstemmed A brief summary of human molecular genetic techniques for clinical psychiatrists
title_sort brief summary of human molecular genetic techniques for clinical psychiatrists
publisher Academy Publisher
series Open Journal of Psychiatry and Allied Sciences
issn 2394-2053
2394-2061
publishDate 2021-01-01
description Concerted and systematic efforts to understand genetics of human health and disease over the preceding 60 odd years have witnessed remarkable progress. The incremental gains through this journey were enabled by chromosomal analysis, recombinant deoxyribonucleic acid (DNA) techniques, notable discovery of single nucleotide polymorphisms following the Human Genome Project, consequent genome-wide variant-based studies, and now whole genome sequencing with ultimate diagnostic potential. Of note, success in prediction and prevention of chromosomal and single gene disorders comprising ~six to eight per cent each of all genetic disorders have been unprecedented but uncovering genetics of common complex disorders conferring ~60% of the genetic disease burden continues to pose a challenge and await new analytical paradigms - a mix of reductionist and organismal biology together with artificial intelligence and machine learning approaches being the current trend. A brief account of this path of progress in medical genetics and genomic insights along with limitations, to achieve the overarching goals of predictive, preventive, personalised, and participatory medicine is presented in this article.
topic gene
genomics
clinical
medicine
url https://www.ojpas.com/get_file.php?id=34209994&vnr=398173
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