Design of software architecture is intellectually one of the most demanding tasks in software engineering. This paper proposes an approach to automatically synthesize software architecture using genetic algorithms. The technique applies architectural patterns for mutations and quality metrics for evaluating individual architectures, producing a proposal for a software architecture on the basis ...

PURPOSE OF REVIEW Familial hypercholesterolaemia (FH) is an inherited disorder of low-density lipoprotein cholesterol (LDL-C) which is characterised by a raised cholesterol level from birth and a high risk of premature coronary heart disease. In this paper, we review the genetic basis of FH and its impact on the clinical presentation. RECENT FINDINGS Mutations in any of three genes (LDLR, APO...

BACKGROUND AND PURPOSE Lacunar strokes comprise ≈20% of all strokes. Despite this frequency, their pathogenesis is poorly understood. Previous genome-wide association studies in lacunar stroke have been disappointing, which may be because of phenotypic heterogeneity. Pathological and radiological studies suggest that there may be different pathologies underlying lacunar strokes. This has led to...

The last decade has seen the development of large-scale genetics studies which have advanced our understanding of the genetic architecture of many complex heritable traits. In this review, we examine what progress has been made in understanding the genetics of cognitive traits. We cover the whole spectrum of distribution in cognitive abilities, from studies that have identified single genes imp...

Copy number variants (CNVs) represent a frequent type of lesion in human genetic disorders that typically affects numerous genes simultaneously. This has raised the challenge of understanding which genes within a CNV drive clinical phenotypes. Although CNVs can arise by multiple mechanisms, a subset is driven by local genomic architecture permissive to recombination events that can lead to both...

Genetic architecture of a disease comprises the number, frequency, and effect sizes of genetic risk alleles and the way in which they combine together. Before the genomic revolution, the only clue to underlying genetic architecture of schizophrenia came from the recurrence risks to relatives and the segregation patterns within families. From these clues, very simple genetic architectures could ...

Genetic architecture of a disease comprises the number, frequency, and effect sizes of genetic risk alleles and the way in which they combine together. Before the genomic revolution, the only clue to underlying genetic architecture of schizophrenia came from the recurrence risks to relatives and the segregation patterns within families. From these clues, very simple genetic architectures could ...