Article

The impact of variant annotations on the diagnostic yield of exome sequencing for rare pediatric neurological diseases

2024-07-13

Abstract excerpt

<title>Abstract</title> <p>Variant annotations are crucial for the efficient identification of pathogenic variants. In this study, we retrospectively evaluated the impact of various annotations on identifying 273 pathogenic single nucleotide and small insertion/deletion variants (SNVs/small indels) from 242 patients. Although variant filtering based on allele frequency is essential for narrowing down candidate va...

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Literature Corpus work: 9762310e-040d-50d7-9fdc-ce172ec7da45
DOI: 10.21203/rs.3.rs-4570721/v1

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