Novel genes and variants associated with longevity in Bulgarian centenarians revealed by whole exome sequencing DNA pools: a pilot study

Serbezov, Dimitar; Balabanski, Lubomir; Karachanak-Yankova, Sena; Vazharova, Radoslava; Nesheva, Desislava; Hammoudeh, Zora; Staneva, Rada; Mihaylova, Marta; Damyanova, Vera; Antonova, Olga; Nikolova, Dragomira; Hadjidekova, Savina; Тончева, Драга

doi:10.20517/jtgg.2020.41

Cited by 1 publication

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References 26 publications

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“…Considering the next steps, CIRdb plans to run WES in all the prioritized samples to efficiently examine the fraction of the genome that includes ~ 85% of all described disease-causing variants 93 . Using WES at population scale, it has been possible to detect an enrichment of risk variants for Panic Disorder in the Faroese population 94 , specific genetic loci associated with longevity in Bulgarian centenarians 95 , or study the metabolic impact of candidate effector genes in Southwestern American Indian population 96 , to name a few. WGS theoretically targets the entire DNA sequence of donors, offering the optimal solution for unbiased genetic studies although at higher costs per sample.…”

Section: Discussionmentioning

confidence: 99%

Developing CIRdb as a catalog of natural genetic variation in the Canary Islanders

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Rubio-Rodríguez

Muñoz-Barrera

et al. 2022

Sci Rep

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The current inhabitants of the Canary Islands have a unique genetic makeup in the European diversity landscape due to the existence of African footprints from recent admixture events, especially of North African components (> 20%). The underrepresentation of non-Europeans in genetic studies and the sizable North African ancestry, which is nearly absent from all existing catalogs of worldwide genetic diversity, justify the need to develop CIRdb, a population-specific reference catalog of natural genetic variation in the Canary Islanders. Based on array genotyping of the selected unrelated donors and comparisons against available datasets from European, sub-Saharan, and North African populations, we illustrate the intermediate genetic differentiation of Canary Islanders between Europeans and North Africans and the existence of within-population differences that are likely driven by genetic isolation. Here we describe the overall design and the methods that are being implemented to further develop CIRdb. This resource will help to strengthen the implementation of Precision Medicine in this population by contributing to increase the diversity in genetic studies. Among others, this will translate into improved ability to fine map disease genes and simplify the identification of causal variants and estimate the prevalence of unattended Mendelian diseases.

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Section: Discussionmentioning

confidence: 99%

Developing CIRdb as a catalog of natural genetic variation in the Canary Islanders

Usera

Rubio-Rodríguez

Muñoz-Barrera

et al. 2022

Sci Rep

View full text Add to dashboard Cite

show abstract

Novel genes and variants associated with longevity in Bulgarian centenarians revealed by whole exome sequencing DNA pools: a pilot study

Abstract: Novel genes and variants associated with longevity in Bulgarian centenarians revealed by whole exome sequencing DNA pools: a pilot study.

Cited by 1 publication

References 26 publications

Developing CIRdb as a catalog of natural genetic variation in the Canary Islanders

Developing CIRdb as a catalog of natural genetic variation in the Canary Islanders

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