{"id":"W1980171391","doi":"10.1038/nrg3555","title":"Rare-disease genetics in the era of next-generation sequencing: discovery to translation","year":2013,"lang":"en","type":"review","venue":"Nature Reviews Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":752,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Ottawa; Children's Hospital of Eastern Ontario","funders":"","keywords":"Biology; Identification (biology); Disease; DNA sequencing; Computational biology; Genetics; Rare disease; Gene; Bioinformatics; Medicine; Pathology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09544795469650916,"score_gpt":0.3383517776845714,"score_spread":0.2429038229880623,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}