Genetic & Genomic MedicineHuman MutationPeer-reviewed
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Rebekkah J. Hitti‐Malin, Claire‐Marie Dhaenens, Daan M. Panneman…·Frans P.M. Cremers
The paper uses smMIPs to sequence MD-associated genes and loci in patients, achieving high coverage and a 38% diagnostic yield.
21 citations