A relatively common (present in more than 1% of the population) alternative version of a DNA sequence. Some variants are associated with particular traits and disorders, but many have no observable effect on appearance or health.
The role of PLCG2 – a gene linked to Alzheimer's disease – in brain health may be broader than previously thought, a new study suggests...
People's opinions on using preimplantation genetic testing for non-medical traits do not always reflect the decisions they make about selecting embryos when presented with the results...
Gene therapy designed to deliver a healthy copy of the ALPK3 gene can restore heart function, raising the possibility of a future treatment for some forms of inherited cardiomyopathy...
An approach based on machine learning may reveal signatures of disease in prenatal tissues based on information obtained from postnatal blood samples...
PGT-A is widely used to assess the chromosome status of IVF embryos, but how accurately can a biopsy of just a handful of cells predict an embryo's genetic makeup? Dr Desislava Staneva explains why interpreting PGT-A results is more complex than it may first appear...
Limits on the number of children born from one donor may have ethical and psychosocial benefits, but they will not reduce the overall likelihood of donor-conceived people inheriting genetic conditions, write Dr Heidi Mertes and Dorian Accoe...
A recent paper calls on the European Union to introduce an EU-wide limit on families created from a single donor's sperm. Professors Lucy Frith and Jackson Kirkman-Brown explain why...
Rare variants in the FNIP1 gene are linked to lower body fat, less liver fat, a more favourable fat distribution and around 60 percent lower odds of cardiometabolic disease, according to the largest exome-sequencing study of energy metabolism to date...
Scientists have obtained the most complete and accurate sequence of a human diploid reference genome to date, paving the way for advancements in personalised medicine...
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