دورية أكاديمية
Comparison of three bioinformatics tools in the detection of ASD candidate variants from whole exome sequencing data
| العنوان: | Comparison of three bioinformatics tools in the detection of ASD candidate variants from whole exome sequencing data |
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| المؤلفون: | Apurba Shil, Liron Levin, Hava Golan, Gal Meiri, Analya Michaelovski, Yair Sadaka, Adi Aran, Ilan Dinstein, Idan Menashe |
| المصدر: | Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023) |
| بيانات النشر: | Nature Portfolio, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Medicine LCC:Science |
| مصطلحات موضوعية: | Medicine, Science |
| الوصف: | Abstract Autism spectrum disorder (ASD) is a heterogenous multifactorial neurodevelopmental condition with a significant genetic susceptibility component. Thus, identifying genetic variations associated with ASD is a complex task. Whole-exome sequencing (WES) is an effective approach for detecting extremely rare protein-coding single-nucleotide variants (SNVs) and short insertions/deletions (INDELs). However, interpreting these variants' functional and clinical consequences requires integrating multifaceted genomic information. We compared the concordance and effectiveness of three bioinformatics tools in detecting ASD candidate variants (SNVs and short INDELs) from WES data of 220 ASD family trios registered in the National Autism Database of Israel. We studied only rare ( |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2045-2322 |
| Relation: | https://doaj.org/toc/2045-2322 |
| DOI: | 10.1038/s41598-023-46258-x |
| URL الوصول: | https://doaj.org/article/72d73c661dda4c34a4daba0b28c8aaba |
| رقم الأكسشن: | edsdoj.72d73c661dda4c34a4daba0b28c8aaba |
| قاعدة البيانات: | Directory of Open Access Journals |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 20452322 |
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| DOI: | 10.1038/s41598-023-46258-x |