Biologist (UFPE '09 - Universidade Federal de Pernambuco). PhD in Genetics at the Universidade de São Paulo (USP), 2015. Researcher at the Human Genome and Stem-cell Research Center (HUG-CELL) in collaboration with the Brain Institute, Albert Einstein Hospital. Member of the American Society of Human Genetics. Research interests: population genomics, cell and molecular biology (genetics), functional genomics, biochemistry, bioinformatics. ORCID: https://orcid.org/0000-0002-9068-1713 (Source: Lattes Curriculum)
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Variants in gene regions can have functional effects over its products, often with consequences to clinical phenotypes. Coding non-synonymous variants, to which amino acids are substituted, can impact protein structure and, as a consequence, its function. The analysis and assessment of the effects of the presence of simultaneous non-synonymous coding variants in cis configuration (across …
The APOE gene is identified as a major risk factor for late onset Alzheimer's disease and has three alleles, µ2, µ3 and µ4, related to two non-synonymous substitutions. The presence of the µ4 allele confers an increased risk for the disease in a dose dependent manner (odds ratio 12.9 for homozygous individuals and between 3.2 and 4.2 for heterozygous individuals). The most prevalent form …
Handedness, or hand dominance, is the unequal distribution of manual dexterity between hands. In human populations, in average, 90% of individuals are more skilled with their right hand, while to other animals this ratio is around 1:1. The brain cortex controls this feature in a lateralized or asymmetrical manner. Within the population level, it is possible to detect variability throughou…
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