• Exploring the biological role of postzygotic and germinal de novo mutations in ASD 

  Alonso González, Aitana; Calaza Cabanas, Manuel; Amigo Lechuga, Jorge; González Peñas, Javier; Martínez Regueiro, Rocío; Fernández Prieto, Montserrat; Parellada, Mara; Arango, Celso; Rodríguez Fontenla, María Cristina; Carracedo Álvarez, Ángel María (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 

  Deprez, Sigrid; Paniagua González, Lucía; Velghe, Sofie; Stove, Christophe P. (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 

  Brandini, Stefania; Bergamaschi, Paola; Cerna, Marco Fernando; Gandini, Francesca; Bastaroli, Francesca; Bertolini, Emilie; Cereda, Cristina; Ferretti, Luca; Gómez Carballa, Alberto; Battaglia, Vicenza; Salas Ellacuriaga, Antonio; Semino, Ornella; Achilli, Alessandro; Olivieri, Anna; Torroni, Antonio (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 

  Bachtrog, Doris; Hom, Emily; Wong, Karen M.; Maside Rodríguez, Xulio; Jong, Pieter de (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 

  Puente Vila, María del Carmen de la; Phillips, Christopher Paul; Xavier, Catarina; Amigo Lechuga, Jorge; Carracedo Álvarez, Ángel María; Parson, Walther; Lareu Huidobro, María Victoria (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 ...

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