Article
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Scientific reports - 21 Oct 2024
Komatsu Kazuyuki, Kato Mitsuhiro, Kubota Kazuo, Fukumura Shinobu, Yamada Keitaro, Hori Ikumi, Shimizu Kenji, Miyamoto Sachiko, Yamoto Kaori, Hiraide Takuya, Watanabe Kazuki, Aoki Shintaro, Furukawa Shogo, Hayashi Taiju, Isogai Masaharu, Harasaki Takuma, Nakashima Mitsuko, Saitsu Hirotomo
Abstract excerpt
Variant annotations are crucial for efficient identification of pathogenic variants. In this study, we retrospectively analyzed the utility of four annotation tools (allele frequency, ClinVar, SpliceAI, and Phenomatcher) in identifying 271 pathogenic single nucleotide and small insertion/deletion variants (SNVs/small indels). Although variant filtering based on allele frequency is essential for narrowing down on...
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