{"id":"W2926725193","doi":"10.1101/gr.243592.118","title":"A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS","year":2019,"lang":"en","type":"article","venue":"Genome Research","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":31,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Institute of Mental Health; National Institute on Aging; National Health and Medical Research Council; National Institutes of Health; American Academy of Child and Adolescent Psychiatry; Gilead Sciences; J. Willard and Alice S. Marriott Foundation; Tow Foundation; NHLBI Division of Intramural Research; Endocrine Fellows Foundation; Bill and Melinda Gates Foundation; Muscular Dystrophy Association; National Center for Advancing Translational Sciences; National Human Genome Research Institute; ALS Association; National Institute of Allergy and Infectious Diseases; Medical Research Council; Biogen; New York Genome Center; Ellison Medical Foundation","keywords":"Biology; Genetics; Gene; Missense mutation; Computational biology; Phenotype; Homology (biology); Amyotrophic lateral sclerosis; Positive selection; Evolutionary biology; Disease","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":[0.004239505,0.0009764889,0.001210077,0.00339247,0.001232956,0.001501505,0.0008320561,0.0004202846,0.001694805],"category_scores_gemma":[0.009393571,0.0004700627,0.001820462,0.002884081,0.001311474,0.0008178061,0.002979202,0.001697263,0.0004802365],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005016591,"about_ca_system_score_gemma":0.001925547,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003365224,"about_ca_topic_score_gemma":0.007306875,"domain_scores_codex":[0.995986,0.001031851,0.0004361083,0.001408278,0.0008919921,0.0002456841],"domain_scores_gemma":[0.9926392,0.002734815,0.001076935,0.002007569,0.001091075,0.000450543],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.001269471,0.0005245018,0.1115331,0.0005229759,0.002851034,0.001706797,0.003284881,0.02604751,0.27197,0.03472678,0.004805946,0.540757],"study_design_scores_gemma":[0.0007633479,0.002367649,0.2493623,0.0001936364,0.002277224,0.007491212,0.002276464,0.4258421,0.1442178,0.1030308,0.06144267,0.0007347692],"study_design_candidate":"simulation_or_modeling","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.1845066,0.000395665,0.810181,0.0002441188,0.0001307841,0.0004592973,0.0009577372,0.00103885,0.00208602],"genre_scores_gemma":[0.2304035,0.0001947129,0.7651042,0.0003554919,0.0001095041,0.0004514912,0.001642308,0.0005191402,0.001219764],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.004239505,"threshold_uncertainty_score":0.02242088,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1498063166083025,"score_gpt":0.3643845780814913,"score_spread":0.2145782614731888,"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."}}