{"id":"W2991468917","doi":"10.1038/s41593-019-0530-0","title":"Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein","year":2019,"lang":"en","type":"article","venue":"Nature Neuroscience","topic":"Amyotrophic Lateral Sclerosis Research","field":"Medicine","cited_by":150,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"National Institute of Mental Health; ALS Society of Canada; Medical Research Council; King's College London; South London and Maudsley NHS Foundation Trust; Motor Neurone Disease Association; Rare Diseases Clinical Research Network; National Institute of Neurological Disorders and Stroke; National Institute for Health and Care Research; EU Joint Programme – Neurodegenerative Disease Research; National Center for Advancing Translational Sciences; Wellcome Trust; Economic and Social Research Council","keywords":"Amyotrophic lateral sclerosis; Gene; Biology; Neurodegeneration; Exome sequencing; SOD1; Heat shock protein; Genetics; Exome; Proteostasis; Protein folding; Protein aggregation; Mutation; Cell biology; Mutant; Disease; 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":[0.0001559826,0.0004755351,0.0003309055,0.0006719048,0.0005060203,0.0004417377,0.0003188389,0.001305842,0.001271924],"category_scores_gemma":[0.0006695504,0.0001157916,0.0003733134,0.000426342,0.0003891801,0.0002283211,0.0002840807,0.0004959433,0.0004246841],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003272793,"about_ca_system_score_gemma":0.0002361158,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007886735,"about_ca_topic_score_gemma":0.001648035,"domain_scores_codex":[0.9998524,0.00001133398,0.00001544689,0.00003643429,0.00006641353,0.00001790948],"domain_scores_gemma":[0.9997037,0.0001338501,0.00005358836,0.00002014973,0.00004682174,0.00004176659],"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":[0.0009204803,0.00009355666,0.0455718,0.0003768673,0.0003174829,0.03981347,0.0003929323,0.00085805,0.8800278,0.00118907,0.003002332,0.02743627],"study_design_scores_gemma":[0.0001802058,0.0007511539,0.3982508,0.0003319869,0.0009290336,0.09818923,0.001082095,0.008283048,0.4553262,0.006456781,0.0301235,0.00009594041],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9925969,0.00145738,0.001634838,0.0006217618,0.0000954875,0.000013853,0.001687438,0.0001061512,0.001786279],"genre_scores_gemma":[0.9932854,0.000676001,0.001729571,0.0004076082,0.00004866557,0.00001637278,0.0021805,0.00003178963,0.001624095],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001305842,"threshold_uncertainty_score":0.004255056,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04368541612682445,"score_gpt":0.2975108513972639,"score_spread":0.2538254352704394,"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."}}