The current reference genome of Mus musculus, GRCm39, has major gaps in both euchromatic and heterochromatic regions associated with repetitive sequences. In this work, we have sequenced and assembled...

European Journal of Human Genetics - Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder

Laboratory-based Investigator, Faculty Search The Department of Medical Oncology at the Dana-Farber Cancer Institute (DFCI) and the Brigham and Wom...