Kim and colleagues present a benchmarking study of eleven mosaic single-nucleotide variant (SNV) and insertion-deletion mutation (INDEL) detection approaches. TGIL Yonsei University College of Medicine Jiny Ha nature.com/articles/s4159…

Our new paper ‘Contribution of de novo mutations to #meningomyelocele’ is now at medRxiv. A 10-year effort to find causes for this mysterious and common ped-neuro disease. medrxiv.org/content/10.110…. Thanks to Spina Bifida Association, @NICHD_NIH and collaborators!