Non-invasive prenatal testing is becoming commonplace, but, in addition, other tests using only a blood sample are being developed and will have a significant impact, notably in oncology.

The abundance of rare variants in human DNA is the consequence of tremendous recent expansion of our population. Careful measurement of neutral variants in a European population points to more recent and more rapid expansion ...

One of the initial motivations for the Genome project was to improve the detection of possible mutations in children of atomic bomb survivors. In fact it has proved very difficult to find any genetic effect in these ...

New-generation sequencing is already in routine clinical use, notably for the search of actionable mutations in oncology, and for non-invasive prenatal diagnostics. More applications are developing and will soon enter ...

Whole-genome sequencing of monozygotic twin pairs and of their parents brings new and surprising insights into the rate and distribution of de novo mutations.

The likelihood of adult psychiatric problems is increased by childhood trauma, particularly so in carriers of certain alleles of certain genes. I discuss here a recent paper that sheds light on the mechanism of this effect, ...