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Updated: Jun 17, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Position Statement of the Indian Academy of Medical Genetics on Next Generation Sequencing-Based Testing for Rare
Anju Shukla1, Sameer Bhatia2, Mounika Endrakanti3
1Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India. anju.shukla@manipal.edu.
Abstract:
Next-generation sequencing (NGS)-based tests are being increasingly employed by clinicians for obtaining a genetic diagnosis in individuals and families with possible genetic disorders. However, there is a significant disparity in the genomic knowledge and skills of the clinicians employing these tests for care and management of families with rare genetic disorders. Through the current document, the Society for Indian Academy of Medical Genetics (SIAMG) aims to provide guidance and consideration in terms of the type of tests available, their appropriate applications, and result interpretation in order to make judicious use of these tests for rare disease diagnosis.
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