Assessment of the variant prioritisation strategy for genomic newborn screening in the Generation Study

Purpose Genomic sequencing offers the opportunity to screen for hundreds of rare genetic conditions with a single test. To minimise potential negative impact on families and clinical services, it is c...

medrxiv.org

Cohort-level analysis of human de novo mutations points to drivers of clonal expansion in spermatogonia

In renewing tissues, mutations conferring selective advantage may result in clonal expansions. In contrast to somatic tissues, mutations driving clonal expansions in spermatogonia (CES) are also trans...

medrxiv.org