{"id":"W2061194981","doi":"10.1126/science.aaa3650","title":"Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways","year":2015,"lang":"en","type":"article","venue":"Science","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":981,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"National Center for Advancing Translational Sciences; National Institute on Aging; Motor Neurone Disease Association; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Medical Research Council; National Institute for Health and Care Research; Wellcome Trust","keywords":"Optineurin; Amyotrophic lateral sclerosis; Exome sequencing; Gene; Sequestosome 1; TANK-binding kinase 1; Exome; Biology; Genetics; RefSeq; Innate immune system; Autophagy; Disease; Mutation; Bioinformatics; Medicine; Genome; Pathology; Immune system","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":[0.001590607,0.0001275507,0.000216189,0.0003341665,0.0001745107,0.0001582985,0.0002512865,0.0000497621,0.00002757768],"category_scores_gemma":[0.0004677911,0.00009793929,0.00002842648,0.000990307,0.0009290617,0.0005660905,0.0002826943,0.0002579413,0.00006540826],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005227706,"about_ca_system_score_gemma":0.0005877611,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008452612,"about_ca_topic_score_gemma":0.00007704826,"domain_scores_codex":[0.9977507,0.00006748602,0.0002351918,0.000491916,0.0008989885,0.0005556989],"domain_scores_gemma":[0.9989648,0.00003181077,0.00005644802,0.000325274,0.0001966122,0.0004250007],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00004489871,0.00001900905,0.1896312,0.00001847808,0.000004039091,0.00006032915,0.001420175,0.00006992443,0.8036741,0.00005841672,0.00006009138,0.004939283],"study_design_scores_gemma":[0.0009508416,0.0002031353,0.9776064,0.0001675481,0.000008285728,0.00004940694,0.0003152958,0.004575012,0.01458885,0.001263232,0.0001141501,0.0001578654],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997874,0.000710258,0.00001790391,0.0006770755,0.0001518064,0.0002214091,0.000004278032,0.00004771054,0.0002955942],"genre_scores_gemma":[0.9982916,0.0005636037,0.0006531267,0.0002233139,0.00005720553,0.000016018,0.000001165418,0.00001180761,0.0001821386],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7890853,"threshold_uncertainty_score":0.3993849,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1219475378584094,"score_gpt":0.3088997210720526,"score_spread":0.1869521832136432,"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."}}