CFlores-Lab
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labcflores.bsky.social
CFlores-Lab
@labcflores.bsky.social
Passionate scientists leveraging genomics to understand diseases and seeking clinical applications
November 27, 2025 at 10:08 PM
Taken together, CIRdb presents a valuable resource of exome-wide genetic variation in a population at the edge of Southwestern European genetic diversity. Check it out! www.medrxiv.org/content/10.1...
Expanding CIRdb, a comprehensive catalog of whole-exome sequencing data of Canary Islanders
Within the intricate European genetic diversity landscape, Canary Islanders exhibit a unique genetic admixture, comprising European (EUR), North African (NAF), and sub-Saharan African (SSA) ancestries...
www.medrxiv.org
November 27, 2025 at 10:08 PM
Finally, we also identified shared patterns of genetic differentiation between North Africans and Canary Islanders. This prioritized PRUNE1, associated with body mass index, and metabolic and cardiovascular disorders, to be under putative positive selection in the population.
November 27, 2025 at 10:08 PM
We also revealed fine-grained genetic structure leveraging rare variation differentiation patterns and also identified regions enriched in one of the ancestries, including one in 17q21.31 not identified in previous studies.
November 27, 2025 at 10:08 PM
To further improve CIRdb, we now report the analysis of whole-exome sequencing data of the CIRdb to identify 387,555 small variants (15.1% novel). We identify genetic variation with significant biomedical implications for metabolic, infectious, and respiratory diseases.
November 27, 2025 at 10:08 PM
SNP array data and mitogenomes exposed the global and local ancestry components of the cohort individuals, local genetic substructure and admixture, along with inbreeding patterns.
www.nature.com/articles/s41...
www.cell.com/iscience/ful...
Developing CIRdb as a catalog of natural genetic variation in the Canary Islanders - Scientific Reports
Scientific Reports - Developing CIRdb as a catalog of natural genetic variation in the Canary Islanders
www.nature.com
November 27, 2025 at 10:08 PM
Based on this, we are developing the Canary Islanders reference database (CIRdb) as a sequence-based reference catalog of genetic variation to disentangle population specificities with biomedical impact. Follow the advances of the study from github.com/genomicsITER...
GitHub - genomicsITER/cirdb: CIRdb: a catalog of the natural genetic variation of the Canary Islanders, Spain
CIRdb: a catalog of the natural genetic variation of the Canary Islanders, Spain - genomicsITER/cirdb
github.com
November 27, 2025 at 10:08 PM
We have previously shown that the Canary Islanders constitute an European outlier in terms of the genetic influences from North Africa academic.oup.com/mbe/article/...
Genomic Analyses of Human European Diversity at the Southwestern Edge: Isolation, African Influence and Disease Associations in the Canary Islands
Abstract. Despite the genetic resemblance of Canary Islanders to other southern European populations, their geographical isolation and the historical admix
academic.oup.com
November 27, 2025 at 10:08 PM
Check it out! This study has been possible with the support from the funding entities @innovaciontfe.bsky.social #ITER #FundacionDISA @isciiisalud.bsky.social @ciberisciii.bsky.social #EU_HaDEA
November 21, 2025 at 9:47 AM
We now show data from an HIV patient with a prolonged infection. Finding a Delta variant nearly a year after its last transmission in the community in the region is remarkable, further supporting a SARS-CoV-2 reservoir in immunocompromised patients. www.sciencedirect.com/science/arti...
A prolonged Delta SARS-CoV-2 infection during the Omicron wave in an HIV immunosuppressed patient
Here, we describe a fatal, prolonged Delta SARS-CoV-2 infection lasting 55 days during the Omicron wave in a severely immunosuppressed HIV patient. We…
www.sciencedirect.com
November 21, 2025 at 9:47 AM
Kudos! @labcflores.bsky.social and all the collaborators involved! Way to go...
November 14, 2025 at 7:26 PM
This study has been possible with the funding support of many institutions: @isciiisalud.bsky.social @cienciagob.bsky.social @innovaciontfe.bsky.social #FIISC #Neumocan
November 14, 2025 at 7:15 PM
In addition, we show how telomere length measures provide complementary information to DNA sequencing and severe telomere shortening can be used as a supporting evidence of pathogenicity
November 14, 2025 at 7:15 PM
With the strategy, the variant interpretation workload could be reduced, while preserving molecular diagnostic yield
November 14, 2025 at 7:15 PM
Using exome sequencing data from individuals in 13 families with pulmonary fibrosis, we show that implementing this approach in daily practice could support the genetic characterization of patients
November 14, 2025 at 7:15 PM
In this study, led by @aitanaag90.bsky.social, we designed a tiered strategy based of virtual gene panels for identifying relevant genetic variants in affected pulmonary fibrosis families
November 14, 2025 at 7:15 PM