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The established HiCASE technique significantly enhances the detection of ultralow frequency mutated genes in ctDNA, promoting its application and translating basic research into clinical practice.
Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive chorioretinal degenerative disease without approved therapeutic drug. Here, the authors show a promising CRISPR/Cas9 mediated homology-independent targeted integration therapy in patient derived cells and humanized mice carrying BCD mutations.
Bruce Budowle and Antti Sajantila reflect on how short tandem repeats (STRs) became the primary markers of forensic genetics, including for developing investigative leads in criminal cases and humanitarian efforts.