NeuroGenetics
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Diagnostic Yields Across Phenotypes
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Question 1
Which of the following variables is the SINGLE largest driver of yield variation across published WES/WGS diagnostic studies in pediatric neurogenetics?
A
The specific WES/WGS platform (Illumina vs. BGI vs. Ion Torrent)
B
The bioinformatics pipeline and variant calling software used
C
Cohort selection — referral/specialty clinic vs. population-level cohorts
D
The geographic region and ethnic ancestry of the cohort
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