{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001454571,0.0001476898,0.0002521557,0.00006387424,0.00007224923,0.00001333053,0.0001032237,0.00008883604,0.00001223801],"category_scores_gemma":[0.000163205,0.0001505613,0.0000694077,0.0000629459,0.0002083197,0.000002904862,0.00008826765,0.00004406642,0.000001630967],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000301609,"about_ca_system_score_gemma":0.00003175714,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004768204,"about_ca_topic_score_gemma":0.00008359323,"domain_scores_codex":[0.9987957,0.00003946587,0.0005503054,0.0002811633,0.0001734019,0.0001599216],"domain_scores_gemma":[0.9988042,0.00005979126,0.0003768149,0.0003284507,0.0003866261,0.0000441153],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00002405411,0.00005953625,0.0218481,0.0001424423,0.000237477,0.000007087076,0.001150099,0.0003879358,0.9753479,0.00006272636,0.0002180037,0.0005146163],"study_design_scores_gemma":[0.0009387247,0.0008602599,0.03069212,0.00008008799,0.00008662899,0.0001037589,0.005701766,0.000406201,0.9601192,0.0004429698,0.0002911572,0.0002770874],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9952071,0.003936485,0.0001454513,0.00002036886,0.0001092478,0.0002691564,0.00004428542,0.000007266638,0.0002606141],"genre_scores_gemma":[0.9961598,0.000897023,0.002297953,0.00007369246,0.00004603425,0.000007480968,0.0000933359,0.00002077714,0.0004038967],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01522868,"threshold_uncertainty_score":0.6139713,"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."}}