Search results for "DUP"
showing 10 items of 499 documents
PUNAS: A Parallel Ungapped-Alignment-Featured Seed Verification Algorithm for Next-Generation Sequencing Read Alignment
2017
The progress of next-generation sequencing has a major impact on medical and genomic research. This technology can now produce billions of short DNA fragments (reads) in a single run. One of the most demanding computational problems used by almost every sequencing pipeline is short-read alignment; i.e. determining where each fragment originated from in the original genome. Most current solutions are based on a seed-and-extend approach, where promising candidate regions (seeds) are first identified and subsequently extended in order to verify whether a full high-scoring alignment actually exists in the vicinity of each seed. Seed verification is the main bottleneck in many state-of-the-art a…
Malattia di Dupuytren
2012
La malattia di Dupuytren ancora oggi rimane avvolta nel mistero: è incerta la paternità della sua prima descrizione, sebbene, e con molte polemiche, da centoottantuno anni è storicamente legata all’illustre chirurgo francese Guillaume Dupuytren. Un enigma per gli studiosi è anche la sua eziopatogenesi, in cui fattori ambientali, comportamentali, genetici, e biomolecolari, in parte ancora sconosciuti, interagiscono a più livelli, generando reazioni biochimiche a cascata che portano alla ben nota iperproliferazione dei fibroblasti e alla conseguente deposizione di collagene. Essa rappresenta inoltre una sfida per il chirurgo che deve districarsi tra tecniche operatorie differenti in relazione…
Polygenic association between attention-deficit/hyperactivity disorder liability and cognitive impairments.
2022
AbstractBackgroundA recent genome-wide association study (GWAS) identified 12 independent loci significantly associated with attention-deficit/hyperactivity disorder (ADHD). Polygenic risk scores (PRS), derived from the GWAS, can be used to assess genetic overlap between ADHD and other traits. Using ADHD samples from several international sites, we derived PRS for ADHD from the recent GWAS to test whether genetic variants that contribute to ADHD also influence two cognitive functions that show strong association with ADHD: attention regulation and response inhibition, captured by reaction time variability (RTV) and commission errors (CE).MethodsThe discovery GWAS included 19 099 ADHD cases …
Duration of untreated psychosis and its correlates in first-episode psychosis in Finland and Spain
2002
Kalla O, Aaltonen J, Wahlstrom J, Lehtinen V, Garcia Cabeza I, Gonzalez de Chavez M. Duration of untreated psychosis and its correlates in first-episode psychosis in Finland and Spain. Acta Psychiatr Scand 2002: 106: 265–275. © Blackwell Munksgaard 2002. Objective: To examine the association of duration of untreated psychosis (DUP) with early course characteristics in first-episode psychosis in Finland and Spain. Method: Eighty-six patients from Finland (49) and Spain (37) were evaluated on various early course characteristics. Results: The mean value of DUP was 4.0 months (median 2 months) for the Finnish patients and 9.9 months (median 2 months) for the Spanish ones. In both groups, long …
Points massiques, espace des sphères et « hyperbole »
2015
The use of massic points permits to define a branch of a hyperbola in the Euclidean plane using a Rational Quadratic Bézier Curve. In the space of spheres, a circular cone, a circular cylinder, a torus, a pencil of spheres or a Dupin cyclide is represented by a conic. If the kind of the pencil is Poncelet or if the canal surface is a circular cone, a spindle torus, a spindle or a horned Dupin cyclide, the curve is a circle which is seen as a hyperbole. The limit points of the pencil or the singular points of the Dupin cyclide can be determined using the asymptotes of this circle. In this article, we show that the use of massic points simplifies the modelization of these pencils or these Dup…
Unveiling adaptive mechanisms though experimental evolution: the role of duplicated genes and phenotypic plasticity in yeast, and the genetic variabi…
2021
Los seres vivos se enfrentan a condiciones ambientales cambiantes y habitualmente estresantes, agravadas por el cambio climático, que ponen a prueba su capacidad de supervivencia. El cambio en la composición genética de las poblaciones reside en las mutaciones, que son la fuente para la evolución y la adaptación a los cambios. La diversidad genética intrapoblacional está regulada por dos grandes fuerzas evolutivas que cambian la composición genética permitiendo así el acceso a nuevos fenotipos: la deriva genética y la selección natural. Por un lado, la deriva genética fija mutaciones en la población de manera aleatoria e independiente del efecto que suponga dicha mutación para la población.…
Duplicazione della regione critica per la sindrome di Down in un feto con cardiopatia
2008
Duplicazione 5p13.3-p14 in diagnosi prenatale
2009
Duplicazione de novo 9p22.3 in diagnosi prenatale
2009
Cóndilo bífido: a propósito de un caso
2005
En este artículo, a propósito de un caso clínico, se presenta el cóndilo bífido como una rara alteración mandibular con muchas incógnitas. Su diagnóstico suele ser un hallazgo casual en radiografías panorámicas de rutina. El número de casos relatados en literatura ha experimentado en los últimos años un crecimiento debido al aumento de pruebas radiológicas que se realizan. Se discute sobre las diferentes teorías existentes con respecto a la etiología de este proceso. En lo referente a la relevancia clínica del cóndilo bífido señalamos que la gran mayoría son asintomáticos. Es importante realizar un buen diagnóstico diferencial de éste proceso con otras lesiones que producen alteraciones mor…