Researchers develop approach to study rare gene variant pairs that contribute to disease
A team led by investigators at Massachusetts General Hospital (MGH) and the Broad Institute of MIT and Harvard recently developed a strategy for inferring which of these phases is present for rare variant pairs within genes. As reported in Nature Genetics, the work will be helpful for interpreting findings from clinical genetic testing—especially for recessive diseases, which arise when both copies of a gene are impacted by a damaging genetic variant.