University of Washington Medical Center

Assessing the need for reproductive genetic counseling among adults with cystic fibrosis

Abstract Background Reproductive health has become an increasingly important focus for people with cystic fibrosis (CF), and guidelines have recommended routine inclusion of genetic counselors on care teams to address questions regarding infertility, pregnancy planning, prenatal...

A comprehensive assessment of tandem repeat genotyping methods for Nanopore long-read genomes

Tandem repeats play critical roles in human disease and phenotypic diversity but are among the most challenging classes of genomic variation to measure accurately. Long-read sequencing has the potential to accurately characterize long and complex tandem repeats. While an increasi...