{"id":"W4400296611","doi":"10.1093/humrep/deae108.200","title":"P-551 Application of simultaneous PGT-M/PGT-A using whole genome sequencing and haplotyping for monogenetic disorders, multiple variants, low penetrance, and de novo disorders","year":2024,"lang":"en","type":"article","venue":"Human Reproduction","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Sunnybrook Health Science Centre; CReATe Fertility Centre; University of Toronto","funders":"","keywords":"Penetrance; Haplotype; Genetics; Biology; Genome; Whole genome sequencing; Genome-wide association study; Computational biology; Phenotype; Gene; Genotype; Single-nucleotide polymorphism","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00224867,0.000196466,0.0002687087,0.0005891251,0.0004146047,0.0004516478,0.0003014168,0.0001888572,0.001748543],"category_scores_gemma":[0.004622621,0.0001591476,0.0002586788,0.000601556,0.000422882,0.0001536028,0.000471957,0.0002816759,0.0002452521],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004098918,"about_ca_system_score_gemma":0.0008613236,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01410473,"about_ca_topic_score_gemma":0.01487297,"domain_scores_codex":[0.9986449,0.0005766122,0.0001101668,0.0002466595,0.0003329327,0.00008874857],"domain_scores_gemma":[0.9972897,0.001266301,0.0006342172,0.0002937261,0.000314674,0.000201332],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001891572,0.00002060517,0.9869371,0.00004092443,0.0000451744,0.000497474,0.000203418,0.00009711579,0.00152058,0.0000576673,0.0002999618,0.01009073],"study_design_scores_gemma":[0.00001574012,0.0004915804,0.9921173,0.00003267309,0.00008591465,0.003212431,0.0003429823,0.0005427524,0.001738397,0.000038719,0.001375351,0.000006089033],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9922885,0.001204601,0.002250441,0.0001286773,0.00001389806,0.0002071458,0.001114966,0.0000283174,0.002763449],"genre_scores_gemma":[0.9980893,0.0002582789,0.0009716754,0.00006153683,0.000009261408,0.00005496004,0.0002776182,0.000005558008,0.0002717339],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01410473,"threshold_uncertainty_score":0.02804524,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00979845670880913,"score_gpt":0.2482560237274709,"score_spread":0.2384575670186617,"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."}}