BACKGROUND Cell-free fetal nucleic acids (cffNA) can be detected in the maternal circulation
during pregnancy, potentially offering an excellent method for early non-invasive prenatal …

Background: Inherited metabolic disorders (IMDs) are a heterogeneous group of genetic
conditions mostly occurring in childhood. They are individually rare but collectively numerous, …

Abstract: Array-based comparative genomic hybridization is being increasingly used in patients
with learning disability (mental retardation) and congenital anomalies. In this article, we …

Background: We modelled the efficiency of a personalised approach to screening for prostate
and breast cancer based on age and polygenic risk-profile compared with the standard …

The PHG Foundation led a multidisciplinary program, which used results from COGS research
identifying genetic variants associated with breast, ovarian and prostate cancers to model …

Over the last decade genomics and other molecular biosciences have enabled new capabilities
that, according to many, have the potential to revolutionize medicine and healthcare. …

BACKGROUND Neural tube defects are one of the most prevalent congenital anomalies.
Data on the total birth prevalence, live birth and stillbirth prevalence of neural tube defects in …

Individual risk prediction and stratification based on polygenic profiling may be useful in
disease prevention. Risk-stratified population screening based on multiple factors including a …

The decade following the completion of the Human Genome Project has been marked by
divergent claims about the utility of genomics for improving population health. On the one hand…

Many newborn screening programmes now use tandem mass spectrometry in order to
screen for a variety of diseases. However, countries have embraced this technology with a …