Detailed analysis of inversions predicted between two human genomes: errors, real polymorphisms, and their origin and population distribution.

2016

The growing catalogue of structural variants in humans often overlooks inversions as one of the most difficult types of variation to study, even though they affect phenotypic traits in diverse organisms. Here, we have analysed in detail 90 inversions predicted from the comparison of two independently assembled human genomes: the reference genome (NCBI36/HG18) and HuRef. Surprisingly, we found that two thirds of these predictions (62) represent errors either in assembly comparison or in one of the assemblies, including 27 misassembled regions in HG18. Next, we validated 22 of the remaining 28 potential polymorphic inversions using different PCR techniques and characterized their breakpoints …

Functional impact and evolution of a novel human polymorphic inversion that disrupts a gene and creates a fusion transcript

2015

Despite many years of study into inversions, very little is known about their functional consequences, especially in humans. A common hypothesis is that the selective value of inversions stems in part from their effects on nearby genes, although evidence of this in natural populations is almost nonexistent. Here we present a global analysis of a new 415-kb polymorphic inversion that is among the longest ones found in humans and is the first with clear position effects. This inversion is located in chromosome 19 and has been generated by non-homologous end joining between blocks of transposable elements with low identity. PCR genotyping in 541 individuals from eight different human populatio…

Cellular basis of abnormal tissue hardening in lung fibrosis examined with atomic force microscopy

2010

L’avaluació de competències transversals a través de les rúbriques

2015

Este artículo está centrado en el desarrollo competencial en educación superior, promoviendo la investigación formativa como herramienta pedagógica y el uso de la rúbrica para su evaluación. Corresponde a un proyecto de innovación concedido en la Convocatoria del Programa de Mejora e Innovación Docente de la UB (PMID2102)con el objetivo de mostrar su eficacia para mejorar la capacidad de aprendizaje, autonomía y responsabilidad del alumnado. Se presenta la propuesta de intervención elaborada en la asignatura “Observación e Innovación en el aula” del Grado de Educación Infantil de la Universidad de Barcelona durante el curso académico 2012-13; el diseño de la rúbrica para la evaluación de un…