The sequencing and interpretation of the genome obtained from a Serbian individual
2018
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 to 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 putatively impactful 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 under-studied ethnic groups.
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