CFAPXOP-Artigos
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Exploring the biological role of postzygotic and germinal de novo mutations in ASD
(Springer Nature, 2021)De novo mutations (DNMs), including germinal and postzygotic mutations (PZMs), are a strong source of causality for Autism Spectrum Disorder (ASD). However, the biological processes involved behind them remain unexplored. ... -
Evaluation of the Performance and Hematocrit Independence of the HemaPEN as a Volumetric Dried Blood Spot Collection Device
(American Chemical Society, 2019)Dried blood spots (DBS) are often used as a less invasive alternative to venous blood sampling. Despite its numerous advantages, the use of conventional DBS suffers from the hematocrit (hct) effect when analyzing a subpunch. ... -
The Paleo-Indian Entry into South America According to Mitogenomes
(Oxford University Press, 2018)Recent and compelling archaeological evidence attests to human presence ∼14.5 ka at multiple sites in South America and a very early exploitation of extreme high-altitude Andean environments. Considering that, according ... -
Genomic degradation of a young Y chromosome in Drosophila miranda
(BMC, 2008)Background: Y chromosomes are derived from ordinary autosomes and degenerate because of a lack of recombination. Well-studied Y chromosomes only have few of their original genes left and contain little information about ... -
Building a custom large-scale panel of novel microhaplotypes for forensic identification using MiSeq and Ion S5 massively parallel sequencing systems
(Elsevier, 2020)A large number of new microhaplotype loci were identified in the human genome by applying a directed search with selection criteria emphasizing short haplotype length (<120 nucleotides) and maximum levels of polymorphism ...