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World of Genomics: The United Kingdom

Being a UK based company in the genomics field, we know the space here better than in any other country […]

Researchers have revealed novel ultra-rare risk genes for autism

Researchers have identified ultra-rare, likely gene-disruptive variants unique to autism families, revealing 28 novel candidate risk genes. The genetics of […]

The promise of glioma detection using blood plasma and urine samples

Researchers have developed two novel methods to detect a brain tumour (glioma) using cell-free DNA in the blood plasma and […]

What is multiplex PCR?

The polymerase chain reaction (PCR) is a well-established amplification technique that is widely used to rapidly make millions of copies […]

Resolving the driving forces behind tumour heterogeneity

Researchers have recently developed an in vitro model that can distinguish between the genetic, epigenetic and stochastic factors underlying tumour […]

A substantial genetic contributor to loss of Y chromosome and type 2 diabetes

Researchers have identified loss-of-function GIGYF1 variants that contribute more to the risk of loss of Y chromosome and type 2 […]

Differential DNA methylation contributes to risk of multiple sclerosis

A recent study has discovered differentially methylated genomic regions harbouring 4 loci associated with risk of multiple sclerosis. Multiple sclerosis […]

Major depressive disorder and energy metabolism: diving deep with omics technology

Omics technologies have revealed molecular insights into the complex relationship between impaired energy metabolism and major depressive disorder. Major Depressive […]

Working to improve pipeline efficiency using genomics

Although the Food and Drug Administration approved a record number of novel therapeutics in 2020, only one drug out of […]

Penetrance in monogenic metabolic conditions

Researchers have used exome sequencing data from 77,184 individuals to generate penetrance estimates and assess the utility of polygenic variation […]