{"id":"W1977673229","doi":"10.1159/000336293","title":"A Unified Framework for Detecting Rare Variant Quantitative Trait Associations in Pedigree and Unrelated Individuals via Sequence Data","year":2012,"lang":"en","type":"article","venue":"Human Heredity","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; National Institute on Minority Health and Health Disparities; Canadian Institutes of Health Research; Rice University; National Institutes of Health; National Science Foundation","keywords":"Trait; Genetics; Biology; Population; Computer science; Medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.02887068,0.001419927,0.00296482,0.005148484,0.001052187,0.00350602,0.003800484,0.002105324,0.002021744],"category_scores_gemma":[0.04734283,0.001528517,0.003244697,0.004142561,0.002980187,0.003099737,0.003432888,0.002494226,0.0007609621],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001706943,"about_ca_system_score_gemma":0.004526328,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008768422,"about_ca_topic_score_gemma":0.007783405,"domain_scores_codex":[0.9828829,0.01217818,0.0008742019,0.001744319,0.001971761,0.0003486272],"domain_scores_gemma":[0.9693944,0.0233307,0.002052743,0.002755941,0.001706688,0.0007595457],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"simulation_or_modeling","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.0003025745,0.0002281664,0.01465634,0.0006323593,0.0009024691,0.0008386784,0.0006714231,0.4460539,0.004080148,0.3709531,0.003082507,0.1575983],"study_design_scores_gemma":[0.0001167918,0.0002040012,0.001733918,0.0001100208,0.0001656249,0.0004332598,0.00006997732,0.7295704,0.0007663779,0.2603482,0.006389126,0.00009222263],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.001019401,0.0001103757,0.9983793,0.00009670274,0.000007537523,0.00004131193,0.00009971821,0.000127235,0.000118372],"genre_scores_gemma":[0.0395284,0.0002903392,0.9585693,0.0001460257,0.00005210378,0.0004804825,0.0005398993,0.00005533632,0.0003379917],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.02887068,"threshold_uncertainty_score":0.1526846,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1588929793132481,"score_gpt":0.3856703577677539,"score_spread":0.2267773784545057,"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."}}