{"id":"W2053085652","doi":"10.1017/neu.2014.37","title":"Homozygosity mapping of autosomal recessive intellectual disability loci in 11 consanguineous Pakistani families","year":2014,"lang":"en","type":"article","venue":"Acta Neuropsychiatrica","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University; University of Toronto; Centre for Addiction and Mental Health","funders":"Canadian Institutes of Health Research","keywords":"Genetics; Disease gene identification; Biology; Exome sequencing; Genetic linkage; Gene; Candidate gene; Genotyping; Identity by descent; Copy-number variation; Mutation; Allele; Genotype; Haplotype; Genome","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003053804,0.001022052,0.0004928713,0.002398015,0.001662883,0.0005084201,0.0004557586,0.0005314582,0.003607557],"category_scores_gemma":[0.001383318,0.000451509,0.0003063941,0.001518671,0.000974944,0.000182275,0.0007385961,0.0003604062,0.0002543947],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000697338,"about_ca_system_score_gemma":0.000526084,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01127576,"about_ca_topic_score_gemma":0.008639219,"domain_scores_codex":[0.999465,0.00008433854,0.00005296816,0.0002173182,0.00008504031,0.00009522064],"domain_scores_gemma":[0.9993383,0.0002984036,0.0001191412,0.00004366047,0.00006350029,0.0001369088],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009293737,0.0004774471,0.7397919,0.0002058066,0.0002605972,0.1808637,0.00809638,0.0006783514,0.032842,0.0006735986,0.0007149877,0.03446598],"study_design_scores_gemma":[0.0001213,0.0007770354,0.8668908,0.00005769177,0.0002108752,0.1224333,0.002211359,0.0006205692,0.004100494,0.0003192708,0.002195117,0.00006214596],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989977,0.0001028176,0.0002636009,0.00002731087,0.000003150206,0.00001894834,0.0001246635,0.000007198251,0.0004546713],"genre_scores_gemma":[0.9990017,0.0001328941,0.0004724931,0.00003076318,0.000004422593,0.0000153215,0.0001329159,0.000003540684,0.0002058583],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01127576,"threshold_uncertainty_score":0.02242029,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007144588143862349,"score_gpt":0.2169350436219139,"score_spread":0.2097904554780516,"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."}}