Publications by authors named "Heloisa de Souza Andrade"
HLA-B is among the most variable gene in the human genome. This gene encodes a key molecule for antigen presentation to CD8+ T lymphocytes and NK cell modulation. Despite the myriad of studies evaluating its coding region (with an emphasis on exons 2 and 3), few studies evaluated introns and regulatory sequences in real population samples.
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- Whole-genome sequencing (WGS) provides a valuable dataset of 1,171 highly admixed elderly Brazilians, revealing over 76 million genetic variants, including many that are missing from public databases.
- The study identifies around 2,000 new mobile element insertions, nearly 5 Mb of unique genomic segments, and over 140 rare HLA gene alleles, showcasing the utility of WGS in uncovering previously unknown genetic information.
- It highlights the clinical relevance of the findings by reclassifying variants linked to Mendelian disorders and suggests improvements in genomic imputation methods using WGS data from underrepresented populations.