Background Genomic technology can now deliver cost effective, targeted diagnosis and
treatment for patients. Genetic counselling is a communication process empowering patients …

Despite the plethora of empirical studies conducted to date, debate continues about whether
and to what extent results should be returned to participants of genomic research. We aimed …

Background and purpose During the years prior to the turn of the century, scientific and
medical attention for genetic disorders was mainly focused on understanding rare single …

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS | The BMJ Skip
to main content Intended for healthcare professionals Access provided by Google Indexer …

Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic
variation influences the development of illness requiring critical care or hospitalization,–after …

Analyzing genomic data across populations is central to understanding the role of genetic
factors in health and disease. Successful data sharing relies on public support, which …

The discovery of 'high-risk'de novo copy number variants (CNVs) associated with
neuropsychiatric disorders such as schizophrenia offers the opportunity to translate these …

Background This study aimed to estimate the association between antihypertensive therapy
and mortality in patients with autosomal dominant polycystic kidney disease (ADPKD). Study …

We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia
(FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data …

Sudden cardiac death (SCD) accounts for 10–20% of total mortality, ie, one in five
individuals will eventually die suddenly. Given the substantial genetic component of SCD in …