Joel N. Hirschhorn

Dec 6, 2023 | nature.com | Laurent C. Francioli |Sarah Stenton |Samantha Baxter |Benjamin M. Neale |Joel N. Hirschhorn |Heidi Rehm | +3 more

AbstractRecessive diseases arise when both copies of a gene are impacted by a damaging genetic variant. When a patient carries two potentially causal variants in a gene, accurate diagnosis requires determining that these variants occur on different copies of the chromosome (that is, are in trans) rather than on the same copy (that is, in cis). However, current approaches for determining phase, beyond parental testing, are limited in clinical settings.