To investigate the influence of VUS on pregnancy outcome and fetuses. 132 VUS CNVs were identified in 3657 fetal amniotic fluid specimens by CNV-Seq. Parent-of-origin testing was subsequently analyzed ...
A new analysis explores the genetic liability of psychiatric disorders using polygenic scores and recurrent copy number variants.
Genetic factors strongly influence cancer risk 1,2,3,4,5. Germline variants, which are heritable DNA alterations in germ cells, are important contributors to cancer development 6. A study of childhood ...