Search results for "Genetic algorithm"

Clinical and genetic features of 2 patients with severe hypertriglyceridemia due to a mutation in GPIHBP1 gene

2017

Detection of a novel germline mutation in the von Hippel-Lindau tumour-suppressor gene by fluorescence-labelled base excision sequence scanning (F-BE…

1999

The von Hippel Lindau (VHL) syndrome is an inherited multi-tumour disorder characterised by clinical heterogeneity and high penetrance. The VHL gene has been shown to be a tumour-suppressor gene. A carrier of a germline mutation will be predisposed to a high variety of benign and malign tumours affecting different organ systems. As treatment of VHL malformations in presymptomatic stages will improve significantly the clinical outcome and the patient's quality of life, early and unambiguous detection of a germline mutation is mandatory. Direct sequencing especially of large genes might be laborious and time consuming. Therefore, most laboratories apply single strand conformational polymorphi…

COMPARING EVOLVABILITIES: COMMON ERRORS SURROUNDING THE CALCULATION AND USE OF COEFFICIENTS OF ADDITIVE GENETIC VARIATION

2012

In 1992, David Houle showed that measures of additive genetic variation standardized by the trait mean, CVA (the coefficient of additive genetic variation) and its square (IA), are suitable measures of evolvability. CVA has been used widely to compare patterns of genetic variation. However, the use of CVAs for comparative purposes relies critically on the correct calculation of this parameter. We reviewed a sample of quantitative genetic studies, focusing on sire models, and found that 45% of studies use incorrect methods for calculating CVA and that practices that render these coefficients meaningless are frequent. This may have important consequences for conclusions drawn from comparative…

A New Mutation in the Ryanodine Receptor 2 Gene (RYR2 C2277R) as a Cause Catecholaminergic Polymorphic Ventricular Tachycardia

2015

Germline JAK2 L611S mutation in a child with thrombocytosis

2018

Transglutaminase-1 and Bathing Suit Ichthyosis: Molecular Analysis of Gene/Environment Interactions

2009

Insect resistance to Bacillus thuringiensis insecticidal crystal proteins

2000

Several insect species have developed resistance to insecticidal crystal proteins from Bacillus thuringiensis, either through laboratory selection, or under field conditions. In this chapter we review the current knowledge on the biochemical and genetic mechanisms of resistance to B. thuringiensis. This knowledge will be important in the design of appropriate tactics to manage the development of resistance in insect populations.

Novel SERPING1 mutation causing Hereditary Angioedema in a Brazilian family

2009

Retinoblastoma: implicaciones del estudio genético-molecular

2006

Holocene selection for variants associated with cognitive ability: Comparing ancient and modern genomes

2017

ABSTRACTHuman populations living in Eurasia during the Holocene experienced considerable microevolutionary change. It has been predicted that the transition of Holocene populations into agrarianism and urbanization brought about culture-gene coevolution that favoured via directional selection genetic variants associated with higher general cognitive ability (GCA). To examine whether GCA might have risen during the Holocene, we compare a sample of 99 ancient Eurasian genomes (ranging from 4.56 to 1.21 kyr BP) with a sample of 503 modern European genomes, using three different cognitive polygenic scores. Significant differences favouring the modern genomes were found for all three polygenic s…