Landscape of genomic structural variations in Indian population-based cohorts: Deeper insights into their prevalence and clinical relevance

Landscape of genomic structural variations in Indian population-based cohorts: Deeper insights into their prevalence and clinical relevance

Summary: Structural variations (SV) are large (>50 base pairs) genomic rearrangements comprising deletions, duplications, insertions, inversions, and translocations. Studying SVs is important because they play active and critical roles in regulating gene expression, determining disease predisposi...

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Bibliographic Details
Main Authors: Krithika Subramanian, Mehak Chopra, Bratati Kahali
Format: Article
Language:English
Published: Elsevier 2024-07-01
Series:HGG Advances
Subjects:
Structural variation
whole-genome sequencing
genotyping
rare
common
constraint on missense
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247724000241

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http://www.sciencedirect.com/science/article/pii/S2666247724000241

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