The sequencing and interpretation of the genome obtained from a Serbian individual
| العنوان: | The sequencing and interpretation of the genome obtained from a Serbian individual |
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| المؤلفون: | Robinson-Rechavi, Marc, Mohammed Ismail, Wazim, Pagel, Kymberleigh A., Pejaver, Vikas, Zhang, Simo V., Casasa, Sofia, Mort, Matthew, Cooper, David, Hahn, Matthew W., Radivojac, Predrag |
| المصدر: | PLoS ONE PLoS ONE, Vol 13, Iss 12, p e0208901 (2018) |
| بيانات النشر: | arXiv, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | 0301 basic medicine, Proband, Male, European People, Hominids, Ethnic group, Social Sciences, Genome, Geographical Locations, Serbian People, Ethnicity, Ethnicities, Neanderthals, Multidisciplinary, Paleogenetics, Genomics, Eastern european, Europe, language, Medicine, Female, Physical Anthropology, Serbian, Serbia, Research Article, Science, Context (language use), Biology, 03 medical and health sciences, Archaic Humans, Genomic Medicine, Paleoanthropology, Genetics, Hominins, Animals, Humans, Quantitative Biology - Genomics, Genetic Predisposition to Disease, Genomics (q-bio.GN), Genome, Human, Biology and Life Sciences, Paleontology, Computational Biology, Genetic Variation, Genome Analysis, language.human_language, 030104 developmental biology, Evolutionary biology, Anthropology, FOS: Biological sciences, People and Places, Earth Sciences, Population Groupings, Slavic People, Genome-Wide Association Study |
| الوصف: | Recent genetic studies and whole-genome sequencing projects have greatly improved our understanding of human variation and clinically actionable genetic information. Smaller ethnic populations, however, remain underrepresented in both individual and large-scale sequencing efforts and hence present an opportunity to discover new variants of biomedical and demographic significance. This report describes the sequencing and analysis of a genome obtained from an individual of Serbian origin, introducing tens of thousands of previously unknown variants to the currently available pool. Ancestry analysis places this individual in close proximity of the Central and Eastern European populations; i.e., closest to Croatian, Bulgarian and Hungarian individuals and, in terms of other Europeans, furthest from Ashkenazi Jewish, Spanish, Sicilian, and Baltic individuals. Our analysis confirmed gene flow between Neanderthal and ancestral pan-European populations, with similar contributions to the Serbian genome as those observed in other European groups. Finally, to assess the burden of potentially disease-causing/clinically relevant variation in the sequenced genome, we utilized manually curated genotype-phenotype association databases and variant-effect predictors. We identified several variants that have previously been associated with severe early-onset disease that is not evident in the proband, as well as variants that could yet prove to be clinically relevant to the proband over the next decades. The presence of numerous private and low-frequency variants along with the observed and predicted disease-causing mutations in this genome exemplify some of the global challenges of genome interpretation, especially in the context of understudied ethnic groups. Comment: 18 pages, 2 figures |
| وصف الملف: | application/pdf |
| تدمد: | 1932-6203 |
| DOI: | 10.48550/arxiv.1805.06950 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7acfb4e638fd56e84512448d256fb3caTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....7acfb4e638fd56e84512448d256fb3ca |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19326203 |
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| DOI: | 10.48550/arxiv.1805.06950 |