{"id":"W2887935585","doi":"10.1016/j.ajhg.2018.07.005","title":"Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia","year":2018,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Urologic and reproductive health conditions","field":"Medicine","cited_by":132,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"National Human Genome Research Institute; Eunice Kennedy Shriver National Institute of Child Health and Human Development; European Commission; European Regional Development Fund; U.S. Department of State; Medical Research Council Canada; Fundação para a Ciência e a Tecnologia; National Institute of Mental Health; Medical Research Council; Eesti Teadusagentuur; Fundació Catalana de Trasplantament; National Institutes of Health","keywords":"Azoospermia; Genetics; Allele; Loss function; Biology; Function (biology); Gene; Phenotype; Infertility; Pregnancy","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003828808,0.0001215258,0.0004236063,0.0002017346,0.0001360366,0.000005879479,0.0001718008,0.00003922018,0.0000989633],"category_scores_gemma":[0.0001041242,0.00007701605,0.00008047372,0.0003947352,0.001287796,0.00004579584,0.00004022122,0.0003802044,0.00001251982],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007267325,"about_ca_system_score_gemma":0.000209092,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004414027,"about_ca_topic_score_gemma":0.00001981842,"domain_scores_codex":[0.9986971,0.000146075,0.0005334376,0.0001618513,0.0002513437,0.0002101876],"domain_scores_gemma":[0.9979745,0.00006847554,0.0009204514,0.0003388495,0.000596418,0.0001013489],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.007534911,0.001862165,0.682758,0.000161588,0.002139625,0.0006637586,0.02716657,0.000520402,0.1908652,0.00136565,0.005628793,0.0793333],"study_design_scores_gemma":[0.0009193563,0.007192164,0.9846455,0.0000766544,0.0002211686,0.0004694644,0.00142015,0.00002157351,0.001576378,0.003024923,0.0003444145,0.00008822279],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969227,0.000331972,0.0006282165,0.001023079,0.0003267736,0.0001888473,0.000004033878,0.000004801754,0.0005696224],"genre_scores_gemma":[0.9972226,0.0003181727,0.0008541729,0.0005262144,0.0009282841,0.000002806795,0.000001647151,0.00001622073,0.0001298655],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3018875,"threshold_uncertainty_score":0.4744938,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02913359698823734,"score_gpt":0.3369030690036028,"score_spread":0.3077694720153654,"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."}}