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Article

Reanalysis of Exome Sequencing Data in the Indian Undiagnosed Diseases Program: Improving Diagnostic Yield and Ending Diagnostic Odyssey.

Clinical genetics - 1 Jun 2025

Garg Neha, Lakshmi Pragna, Singh Suzena M, Kulshreshta Samarth, Ranganath Prajnya, Moirangthem Amita, Dalal Ashwin, Gahlot Aakanksha, Puri Ratna Dua

Abstract excerpt

In 2021, the Indian Undiagnosed Diseases Program was initiated for patients without a definite diagnosis despite extensive evaluation in four participating sites. Between February 2021 and March 2023, a total of 88 patients were recruited and underwent deep phenotyping. A uniform methodology for data re-analysis was implemented as the first step prior to conducting additional genomic testing. The largest cohort...

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Identifiers

PMID: 39806532
DOI: 10.1111/cge.14694

Genes

DAAM2
FBN1
GJC2
GLRX5
KIAA0753
PCNT
PHKG2
SELENOI
VPS33B

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