{"id":"W2801629802","doi":"10.1038/s41431-018-0141-3","title":"Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles","year":2018,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Gestational Trophoblastic Disease Studies","field":"Medicine","cited_by":119,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University and Génome Québec Innovation Centre; McGill University Health Centre","funders":"Canadian Institutes of Health Research; National Natural Science Foundation of China","keywords":"Biology; Missense mutation; Infertility; Genetics; Phenotype; Gene; Exome sequencing; Pregnancy; Embryo; Andrology; Medicine","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0004251982,0.0008776569,0.0004144617,0.001694081,0.0006378268,0.0007093628,0.0006294718,0.001355473,0.007826416],"category_scores_gemma":[0.003652422,0.000292783,0.0007611361,0.00159504,0.0004599614,0.0002966662,0.0007372901,0.000753649,0.0004528525],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001491169,"about_ca_system_score_gemma":0.0001990174,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001257532,"about_ca_topic_score_gemma":0.0007752587,"domain_scores_codex":[0.9994179,0.0001756024,0.00007191818,0.0001427657,0.0001076323,0.000084183],"domain_scores_gemma":[0.9983991,0.0007093346,0.0005120206,0.0001143065,0.00006586175,0.0001994076],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.005527939,0.0002266377,0.863655,0.0005102936,0.001474301,0.04910713,0.001883278,0.00105776,0.04180035,0.003148618,0.00181195,0.02979676],"study_design_scores_gemma":[0.0002306381,0.000639358,0.8656142,0.0003594984,0.00169779,0.1066966,0.001029611,0.00142869,0.009145598,0.004608482,0.008481607,0.00006779053],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9923436,0.002847779,0.000644599,0.0004772665,0.00007325823,0.00001631486,0.001082429,0.00002686613,0.002487859],"genre_scores_gemma":[0.9982817,0.0004871204,0.0003879228,0.00006793615,0.0000539575,0.00000642647,0.0002714185,0.000005891898,0.0004376806],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007826416,"threshold_uncertainty_score":0.026182,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03506641260457868,"score_gpt":0.2920730003625351,"score_spread":0.2570065877579565,"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."}}