Genome wide approaches are now commonly used to examine the genetics underlying complex phenotypes. These approaches yield a varying number of loci associated with the phenotype, depending on significance thresholds and interpretation of results is less than straightforward. There is a consequential need to develop new analytical approaches to maximise the value of genome wide association studi...

Genotype imputation is a vital tool in genome-wide association studies (GWAS) and meta-analyses of multiple GWAS results. Imputation enables researchers to increase genomic coverage and to pool data generated using different genotyping platforms. HapMap samples are often employed as the reference panel. More recently, the 1000 Genomes Project resource is becoming the primary source for referenc...

Article history: Received 7 June 2016 Received in revised form 25 July 2016 Accepted 14 August 2016 Available online 29 August 2016 We examinedwhether assortative mating for educational attainment (“likemarries like”) can be detected in the genomes of ~1600 UK spouse pairs of European descent. Assortative mating on heritable traits like educational attainment increases the genetic variance and ...

OBJECTIVES As whole genome sequencing (WGS) becomes increasingly available, clinicians will be faced with conveying complex information to individuals at different stages in life. The purpose of this study is to characterize the views of young adults toward obtaining WGS, learning different types of genomic information, and having choice about which results are disclosed. METHODS A mixed-meth...

Supercentenarians (age 110+ years old) generally delay or escape age-related diseases and disability well beyond the age of 100 and this exceptional survival is likely to be influenced by a genetic predisposition that includes both common and rare genetic variants. In this report, we describe the complete genomic sequences of male and female supercentenarians, both age >114 years old. We show t...

GWAS: ‘‘G-whiz!’’ or ‘‘GWAShed-up’’? Genome-wide association studies (GWASs) link single-nucleotide variations in the human genome to a complex trait. Over the past 4 years, these ground-breaking studies have identified almost 1000 alleles increasing an individual’s risk for developing common diseases, such as cancer and obesity. However, these variants often explain only a small portion of the...

Although many genomes are available for download today, the underlying technologies should not be taken for granted. By using shotgun sequencing techniques and a gauntlet of informatics, we are able to produce high-quality DNA sequence. We will first look at some of the robotics and chemistries of preparing DNA as samples for the sequencing instruments. Then we will look at the series of applic...

Telomere length varies considerably among individuals. It is highly heritable and decreases with ageing or ageing related diseases. Recently, genome-wide association studies (GWAS) have identified several genetic loci associated with telomere length in adults. However, it is unclear whether these loci represent the genetic basis of telomere length or determine the individual susceptibility to s...

Introduction Genome-wide association studies (GWAS) are a powerful means for identifying genes with disease-associated common variants, but they are not well-suited to detect genes with disease-associated rare or low-frequency variants. It has long been debated whether the innate immune system is involved in the pathogenesis of Behçet’s disease (BD) but genetic evidence to support this hypothes...

Much progress has been made in recent years in identifying genes involved in the risk of developing Alzheimer's disease (AD), the most common form of dementia. Yet despite the identification of over 20 disease associated loci, mainly through genome wide association studies (GWAS), a large proportion of the genetic component of the disorder remains unexplained. Recent evidence from the AD field,...