Preprint sequencing method screens for candidate Robertsonian translocations in UK Biobank
In a bioRxiv preprint that has not been peer reviewed, researchers presented a method to type balanced Robertsonian translocation (ROB) carriers from short and long sequencing reads by estimating distal junction copy number. Balanced ROB occurs in roughly 1 in 800 newborns, increases cancer risk, is often diagnosed at fertility clinics after recurrent miscarriages or infertility, and results in the loss of two ribosomal DNA arrays and adjacent distal sequences. Applied to 4,172 healthy newborns and family members and 490,416 UK Biobank participants, the method found candidate ROBs at a 0.11% to 0.12% frequency, consistent with the previously reported incidence.
The authors report that their approach provides the first screening method for candidate Robertsonian translocation carriers using low-coverage sequencing data.
Written by the Genomes desk from the primary source cited and linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].