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ROUA Database: 300 Human Genomes from the border of Ukraine and Romania
#1
I decided to create a thread in this section, since this is a full-genome study and the medical component is in the first place here. Quite a large-scale study. So far, the work is not published and the data is not available.

Quote:ROUA Database: 300 Human Genomes from the border of Ukraine and Romania

Abstract
We present a multi-layered data source (ROUA Database) providing the results of Whole Genome Sequencing of two human populations in the Carpathian Mountains region, specifically Ukraine’s Transcarpathia and Romania’s Satu Mare and Baia Mare provinces, areas previously underexplored in population genomics. The database contains the raw and annotated files of the whole genome sequences from 300 individuals from these regions, including annotations of common and unique genetic variants following a sampling protocol designed to capture the genetic diversity of Ukrainians and Romanians, including minority groups like Wallachians and Roma. The data is hosted on a dedicated web resource. We provide information on how to access to results of primary and secondary analysis of the data, including comparative analysis with previously published populations from Ukraine, and populations from International Genome Sample Resource and Human Genome Diversity Project. The free research access to this database is contributing to growing understanding of human genetic diversity in Central Europe. This effort emphasizes the potential for reuse of the generated data, advocating for open access to support future research in genomics, bioinformatics, and personalized medicine.

https://www.biorxiv.org/content/10.1101/...437v1.full
Capsian20, JMcB, Manofthehour And 5 others like this post
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#2
Would be great to get the haplogroups, especially from Transcarpathia, which is an E-V13 hotspot.
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#3
(03-24-2024, 04:04 PM)Riverman Wrote: Would be great to get the haplogroups, especially from Transcarpathia, which is an E-V13 hotspot.

How percentage hg E-V13 in West Ukrainian ? 
I think this samples mostly will be I2 and R-Z282
Target: CapsianWGS_scaled
Distance: 1.2510% / 0.01251049
37.2 Iberomaurusian
36.8 Early_European_Farmer
12.8 Early_Levantine_Farmer
8.0 Steppe_Pastoralist
4.8 SSA
0.4 Iran_Neolithic
FTDNA : 91% North Africa +<2% Bedouin + <2  Southern-Levantinfo + <1 Sephardic Jewish + 3% Malta +  3%  Iberian Peninsula
23andME :  100% North Africa

WGS ( Y-DNA and mtDNA)
Y-DNA: E-A30032< A30480 ~1610 CE
mtDNA: V25b 800CE ? ( age mtDNA not accurate )
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#4
(03-27-2024, 12:50 PM)Capsian20 Wrote:
(03-24-2024, 04:04 PM)Riverman Wrote: Would be great to get the haplogroups, especially from Transcarpathia, which is an E-V13 hotspot.

How percentage hg E-V13 in West Ukrainian ? 
I think this samples mostly will be I2 and R-Z282

There are conflicting results, but they should be around 10 %, give or take 5. The diversity however is very high in Eastern Slovakia and Transcarpathia.
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