Whole Exome Sequencing in Healthy Individuals of Extreme Constitution Types Reveals Differential Disease Risk: A Novel Approach towards Predictive Medicine
Tahseen Abbas,Gaurav Chaturvedi,P. Prakrithi,Ankit K. Pathak,Rintu Kutum,Pushkar Dakle,Ankita Narang,Vijeta Manchanda,Rutuja Patil,Dhiraj Aggarwal,Bhushan Girase,Ankita Srivastava,Manav Kapoor,Ishaan Gupta,Rajesh Pandey,Sanjay Juvekar,Debasis Dash,Mitali Mukerji,Bhavana Prasher +18 more
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TLDR
It is hypothesize that exome sequencing in healthy individuals of phenotypically homogeneous Prakriti types might enable the identification of functional variations associated with the constitution types and highlight novel SNPs that could explain differential trajectories for immune response, bleeding or thrombosis.Abstract:
Precision medicine aims to move from traditional reactive medicine to a system where risk groups can be identified before the disease occurs. However, phenotypic heterogeneity amongst the diseased and healthy poses a major challenge for identification markers for risk stratification and early actionable interventions. In Ayurveda, individuals are phenotypically stratified into seven constitution types based on multisystem phenotypes termed “Prakriti”. It enables the prediction of health and disease trajectories and the selection of health interventions. We hypothesize that exome sequencing in healthy individuals of phenotypically homogeneous Prakriti types might enable the identification of functional variations associated with the constitution types. Exomes of 144 healthy Prakriti stratified individuals and controls from two genetically homogeneous cohorts (north and western India) revealed differential risk for diseases/traits like metabolic disorders, liver diseases, and body and hematological measurements amongst healthy individuals. These SNPs differ significantly from the Indo-European background control as well. Amongst these we highlight novel SNPs rs304447 (IFIT5) and rs941590 (SERPINA10) that could explain differential trajectories for immune response, bleeding or thrombosis. Our method demonstrates the requirement of a relatively smaller sample size for a well powered study. This study highlights the potential of integrating a unique phenotyping approach for the identification of predictive markers and the at-risk population amongst the healthy.read more
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References
More filters
Journal ArticleDOI
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
TL;DR: The ANNOVAR tool to annotate single nucleotide variants and insertions/deletions, such as examining their functional consequence on genes, inferring cytogenetic bands, reporting functional importance scores, finding variants in conserved regions, or identifying variants reported in the 1000 Genomes Project and dbSNP is developed.
Journal ArticleDOI
The human disease network
Kwang-Il Goh,Michael E. Cusick,David Valle,Barton Childs,Marc Vidal,Albert-László Barabási,Albert-László Barabási +6 more
TL;DR: This paper found that essential human genes are likely to encode hub proteins and are expressed widely in most tissues, while the vast majority of disease genes are non-essential and show no tendency to encoding hub proteins, and their expression pattern indicates that they are localized in the functional periphery of the network.
Journal ArticleDOI
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
Danielle Welter,Jacqueline A. L. MacArthur,Joannella Morales,Tony Burdett,Peggy Hall,Heather Junkins,Alan Klemm,Paul Flicek,Teri A. Manolio,Lucia A. Hindorff,Helen Parkinson +10 more
TL;DR: A number of recent improvements to theNHGRI Catalog of Published Genome-Wide Association Studies are presented, including novel ways for users to interact with the Catalog and changes to the curation infrastructure.
Journal Article
human disease network
TL;DR: It is found that essential human genes are likely to encode hub proteins and are expressed widely in most tissues, suggesting that disease genes also would play a central role in the human interactome, and that diseases caused by somatic mutations should not be peripheral.
Journal ArticleDOI
Benefits and limitations of genome-wide association studies.
Vivian W.Y. Tam,Nikunj Patel,Michelle Turcotte,Yohan Bossé,Guillaume Paré,David Meyre,David Meyre +6 more
TL;DR: This Review comprehensively assess the benefits and limitations of GWAS in human populations and discusses the relevance of performing more GWAS, with a focus on the cardiometabolic field.
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