The Iberian Roma genetic variant server; population structure, susceptibility to disease and adaptive traits.

The Roma are the most numerous ethnic minority in Europe. The Iberian Roma arrived in the Iberian Peninsula five centuries ago and still today, they keep a strong group identity. Demographic and cultural reasons lie behind a high rate of Mendelian disease often related to founder variants. We have analysed exome data from 119 Iberian Roma individuals collected from 2018 to 2020. A database of variant frequency has been implemented (IRPVS) and made available online. We have analysed the carrier rate of founder private alleles as well as pathogenic variants present in the general population. Significant enrichment in structural variants involving gene clusters related to keratinization and epidermal growth suggest that evolutive mechanisms have developed towards climate and environmental adaptation. IRPVS can be accessed at http://irpvs.clinbioinfosspa.es/ ### Competing Interest Statement The authors have declared no competing interest. ### Funding Statement This study has been funded by Instituto de Salud Carlos III through the projects PI16/00612 and PI20/01200 (MCS) (Co-funded by European Regional Development Fund/European Social Fund "A way to make Europe"/"Investing in your future") and Junta de Andalucia-Consejeria de Salud through the project PIER-0468-2019 (MCS). MCS has been supported by ISCIII (JR15/00042) and Junta de Andalucia-Consejeria de Salud (B-0005-2017), JD has been supported by grants PID2020-117979RB-I00 from the Spanish Ministry of Science and Innovation and IMP/00019 from the Instituto de Salud Carlos III (ISCIII). RC has been supported by Junta de Andalucia-Consejeria de Salud y Familias (RH-0052-2021) co-funded by the European Union, European Social Fund (FSE) 2014-2020. ### Author Declarations I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes The details of the IRB/oversight body that provided approval or exemption for the research described are given below: . IRB approval was obtained from bioethics and scientific committees of Hospitales Virgen del Rocio-Macarena -Junta de Andalucia, Consejeria de salud, igualdad y politicas sociales. (VB CEI33160037) I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals. Yes I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). Yes I have followed all appropriate research reporting guidelines, such as any relevant EQUATOR Network research reporting checklist(s) and other pertinent material, if applicable. Yes Sequence data has been deposited at the European Genome-phenome Archive (EGA, see https://ega-archive.org/ last accessed December 5, 2022), under accession number EGAS00001006758.