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November 17, 2020EpilepsiaOpen Access

Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta‐analysis

Arthur Stefanski Yamile Calle‐López Costin Leu Eduardo Pérez‐Palma Elia Pestana‐Knight Dennis Lal

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Abstract

This meta-analysis and systematic review provides a comprehensive overview of clinical sequencing studies of NDDs and will help guide policymaking and steer decision-making in patient management.

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Stefanski et al. (2020) studied this question.

synapsesocial.com/papers/69dbe216387cf70698689206 https://doi.org/10.1111/epi.16755

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurologyCost-Effectiveness Analysis · 2017 · 271 citations
2Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsyClinical Guideline · 2019 · 118 citations
3Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum DisorderOriginal Research · 2015 · 419 citations
4Marked yield of re‐evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilitiesGenetic Association Study · 2017 · 44 citations
5Literature reviews vs systematic reviewsSystematic Review · 2015 · 197 citations

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