Academic Journal
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.
| العنوان: | AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data. |
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| المؤلفون: | Quinodoz, M., Peter, V.G., Bedoni, N., Royer Bertrand, B., Cisarova, K., Salmaninejad, A., Sepahi, N., Rodrigues, R., Piran, M., Mojarrad, M., Pasdar, A., Ghanbari Asad, A., Sousa, A.B., Coutinho Santos, L., Superti-Furga, A., Rivolta, C. |
| المصدر: | Nature communications, vol. 12, no. 1, pp. 518 |
| سنة النشر: | 2021 |
| المجموعة: | Université de Lausanne (UNIL): Serval - Serveur académique lausannois |
| مصطلحات موضوعية: | Chromosome Mapping/methods, Computational Biology/methods, Genetic Predisposition to Disease/genetics, Genome, Human/genetics, Genotype, High-Throughput Nucleotide Sequencing/methods, Homozygote, Humans, Internet, Mutation, Polymorphism, Single Nucleotide, Reproducibility of Results, Software, Whole Exome Sequencing/methods |
| الوصف: | Homozygosity mapping is a powerful method for identifying mutations in patients with recessive conditions, especially in consanguineous families or isolated populations. Historically, it has been used in conjunction with genotypes from highly polymorphic markers, such as DNA microsatellites or common SNPs. Traditional software performs rather poorly with data from Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS), which are now extensively used in medical genetics. We develop AutoMap, a tool that is both web-based or downloadable, to allow performing homozygosity mapping directly on VCF (Variant Call Format) calls from WES or WGS projects. Following a training step on WES data from 26 consanguineous families and a validation procedure on a matched cohort, our method shows higher overall performances when compared with eight existing tools. Most importantly, when tested on real cases with negative molecular diagnosis from an internal set, AutoMap detects three gene-disease and multiple variant-disease associations that were previously unrecognized, projecting clear benefits for both molecular diagnosis and research activities in medical genetics. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/33483490; info:eu-repo/semantics/altIdentifier/eissn/2041-1723; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_03712A3BC8BB9; https://serval.unil.ch/notice/serval:BIB_03712A3BC8BB; https://serval.unil.ch/resource/serval:BIB_03712A3BC8BB.P001/REF.pdf |
| DOI: | 10.1038/s41467-020-20584-4 |
| الاتاحة: | https://serval.unil.ch/notice/serval:BIB_03712A3BC8BB https://doi.org/10.1038/s41467-020-20584-4 https://serval.unil.ch/resource/serval:BIB_03712A3BC8BB.P001/REF.pdf http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_03712A3BC8BB9 |
| Rights: | info:eu-repo/semantics/openAccess ; CC BY 4.0 ; https://creativecommons.org/licenses/by/4.0/ |
| رقم الانضمام: | edsbas.EB489CDC |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/s41467-020-20584-4 |
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