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FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia
Children's rare disease cohorts: an integrative research and clinical genomics initiative
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes
Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy.
The BabySeq project: implementing genomic sequencing in newborns
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
