{"id":"W2922471749","doi":"10.1111/ahg.12307","title":"Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations","year":2019,"lang":"en","type":"article","venue":"Annals of Human Genetics","topic":"melanin and skin pigmentation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Centre for Addiction and Mental Health","funders":"Higher Education Commision, Pakistan; Higher Education Commission, Pakistan","keywords":"Oculocutaneous albinism; Genetics; Sanger sequencing; Biology; Albinism; Exome sequencing; Genotyping; Disease gene identification; Consanguinity; Genetic heterogeneity; Mutation; Gene; Hypopigmentation; Single-nucleotide polymorphism; Genotype; Phenotype","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003038954,0.0008386856,0.0003796018,0.001207497,0.000908224,0.0003134243,0.0002822076,0.0003890916,0.002134759],"category_scores_gemma":[0.001014778,0.000231397,0.0003903814,0.001005592,0.0006320326,0.0001659021,0.0004634932,0.0003211486,0.0001962234],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003886422,"about_ca_system_score_gemma":0.0002915084,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004265374,"about_ca_topic_score_gemma":0.00418458,"domain_scores_codex":[0.9995159,0.00005663989,0.00004949264,0.0002165121,0.0001008449,0.00006076944],"domain_scores_gemma":[0.9994853,0.0001806862,0.0001260097,0.00003631721,0.00006654711,0.0001050689],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001039425,0.0002158137,0.6818221,0.0001748575,0.0004522565,0.1403036,0.005071216,0.0002966137,0.1366775,0.0006586518,0.0004906548,0.03279737],"study_design_scores_gemma":[0.0001283587,0.0004783417,0.7977725,0.0000520563,0.000385667,0.1761103,0.001532529,0.0009392255,0.01794783,0.0002566439,0.004330244,0.00006624736],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988641,0.0001836286,0.0003519647,0.00002687324,0.000007267447,0.00001446245,0.00009517237,0.000006429618,0.0004502548],"genre_scores_gemma":[0.9990061,0.0001869075,0.0004159017,0.00003358104,0.000008231548,0.000007584219,0.0001017181,0.000004038649,0.0002360892],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004265374,"threshold_uncertainty_score":0.008481085,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.068898295086688,"score_gpt":0.3604677450439975,"score_spread":0.2915694499573095,"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."}}