{"id":"W2158133398","doi":"10.1586/14737159.7.1.33","title":"Preimplantation genetic diagnosis for monogenic diseases: overview and emerging issues","year":2006,"lang":"en","type":"review","venue":"Expert Review of Molecular Diagnostics","topic":"Prenatal Screening and Diagnostics","field":"Medicine","cited_by":45,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Thomas Hospital","funders":"","keywords":"Preimplantation genetic diagnosis; Genetic testing; Biology; Disease; Multiplex; Genetics; Pregnancy; Medicine; Bioinformatics; Pathology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002099713,0.0007237661,0.003264039,0.0001905319,0.00007392251,0.00003249119,0.000267716,0.0003013489,0.00003292932],"category_scores_gemma":[0.004498907,0.0006044208,0.001092031,0.0003517938,0.000105488,0.0000533612,0.0001709656,0.0002256782,0.00001179415],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00008016067,"about_ca_system_score_gemma":0.0002452781,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008717143,"about_ca_topic_score_gemma":0.000002532406,"domain_scores_codex":[0.9967162,0.0002193715,0.001439557,0.0006984944,0.0004952984,0.0004310722],"domain_scores_gemma":[0.995912,0.002003596,0.0007499386,0.0007889863,0.0002473069,0.0002981483],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000004967722,0.0001603431,0.0001018099,0.2814792,0.0002652175,0.0001109383,0.00001164609,7.83493e-7,5.19289e-7,0.000116763,0.02787151,0.6898763],"study_design_scores_gemma":[0.0003266271,0.0002178409,0.00006889581,0.2932613,0.006219683,0.0001131909,0.000002677149,0.000009466749,0.00002544175,0.00006025692,0.6992815,0.0004130945],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.000004889264,0.9922546,0.002121134,0.000198753,0.0001991812,0.004326133,0.0007761922,0.00006628203,0.000052887],"genre_scores_gemma":[0.000003171858,0.9817312,0.011821,0.0008587479,0.0003572497,0.002452293,0.002601427,0.0001515674,0.00002333556],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.6894632,"threshold_uncertainty_score":0.9996407,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03400874858485853,"score_gpt":0.3929112159102041,"score_spread":0.3589024673253455,"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."}}