Genetic & Genomic MedicineGenome MedicinePeer-reviewed
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits
Bo Yuan, Katharina Schulze, Nurit Assia Batzir…·Pengfei Liu
The paper demonstrates that recurrent genomic deletions mediated by nonallelic homologous recombination drive recessive disease burden and identifies new disease-contributing variants through exome reanalysis.
11 citations