دورية أكاديمية
The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis.
| العنوان: | The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis. |
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| المؤلفون: | Coelho AVC; Hospital Israelita Albert Einstein, São Paulo, Brazil., Mascaro-Cordeiro B; Hospital Israelita Albert Einstein, São Paulo, Brazil., Lucon DR; Hospital Israelita Albert Einstein, São Paulo, Brazil., Nóbrega MS; Hospital Israelita Albert Einstein, São Paulo, Brazil., Reis RS; Hospital Israelita Albert Einstein, São Paulo, Brazil., de Alexandre RB; Hospital Israelita Albert Einstein, São Paulo, Brazil., Moura LMS; Hospital Israelita Albert Einstein, São Paulo, Brazil., de Oliveira GS; Hospital Israelita Albert Einstein, São Paulo, Brazil., Guedes RLM; Hospital Israelita Albert Einstein, São Paulo, Brazil., Caraciolo MP; Hospital Israelita Albert Einstein, São Paulo, Brazil., Zurro NB; Hospital Israelita Albert Einstein, São Paulo, Brazil., Cervato MC; Hospital Israelita Albert Einstein, São Paulo, Brazil., Oliveira JB; Hospital Israelita Albert Einstein, São Paulo, Brazil. |
| المصدر: | Frontiers in molecular biosciences [Front Mol Biosci] 2022 May 02; Vol. 9, pp. 821582. Date of Electronic Publication: 2022 May 02 (Print Publication: 2022). |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101653173 Publication Model: eCollection Cited Medium: Print ISSN: 2296-889X (Print) Linking ISSN: 2296889X NLM ISO Abbreviation: Front Mol Biosci Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: Lausanne : Frontiers Media S.A., [2014]- |
| مستخلص: | Rare diseases affect up to 13.2 million individuals in Brazil. The Brazilian Rare Genomes Project is envisioned to further the implementation of genomic medicine into the Brazilian public healthcare system. Here we report the validation results of a whole genome sequencing (WGS) procedure for implementation in clinical laboratories. In addition, we report data quality for the first 1,200 real-world patients sequenced. We sequenced a well-characterized group of 76 samples, including seven gold standard genomes, using a PCR-free WGS protocol on Illumina Novaseq 6,000 equipment. We compared the observed variant calls with their expected calls, observing good concordance for single nucleotide variants (SNVs; mean F-measure = 99.82%) and indels (mean F-measure = 99.57%). Copy number variants and structural variants events detection performances were as expected (F-measures 96.6% and 90.3%, respectively). Our WGS protocol presented excellent intra-assay reproducibility (coefficients of variation ranging between 0.03% and 0.20%) and inter-assay reproducibility (coefficients of variation ranging between 0.02% and 0.09%). Limitations of the WGS protocol include the inability to confidently detect variants such as uniparental disomy, balanced translocations, repeat expansion variants, and low-level mosaicism. In summary, the observed performance of the WGS protocol was in accordance with that seen in the best centers worldwide. The Rare Genomes Project is an important initiative to bring pivotal improvements to the quality of life of the affected individuals. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2022 Coelho, Mascaro-Cordeiro, Lucon, Nóbrega, Reis, de Alexandre, Moura, Oliveira, Guedes, Caraciolo, Zurro, Cervato and Oliveira.) |
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| فهرسة مساهمة: | Keywords: genetic diagnostic test; genomics; precision medicine; rare diseases; whole genome sequencing |
| تواريخ الأحداث: | Date Created: 20220519 Latest Revision: 20220716 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC9108541 |
| DOI: | 10.3389/fmolb.2022.821582 |
| PMID: | 35586190 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2296-889X |
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| DOI: | 10.3389/fmolb.2022.821582 |