{"id":"W4408370618","doi":"10.1002/ajmg.a.64046","title":"A Mosaic Hotspot <scp><i>PLCD1</i></scp> Variant, Detectable in Blood‐Derived <scp>DNA</scp>, Associated With Nevus Trichilemmocysticus","year":2025,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetic and rare skin diseases.","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; Newborn Screening Ontario; SickKids Foundation; Children's Hospital of Eastern Ontario; Stollery Children's Hospital; University of Ottawa","funders":"Genome Alberta; Genome British Columbia; Canadian Institutes of Health Research; Genome Canada; Children's Hospital of Eastern Ontario Foundation; Génome Québec; Ontario Genomics Institute","keywords":"Hotspot (geology); Biology; Molecular biology; Genetics","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.000107093,0.0006058499,0.0002732346,0.001218561,0.0004049591,0.0003532063,0.0003695287,0.0006790545,0.004145633],"category_scores_gemma":[0.0006244408,0.0002494208,0.0003400257,0.0007452455,0.0006858932,0.0003488054,0.0004521247,0.0006003496,0.0005606576],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003028426,"about_ca_system_score_gemma":0.000198571,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003217831,"about_ca_topic_score_gemma":0.002897512,"domain_scores_codex":[0.9997799,0.00001705011,0.00001307736,0.00007329327,0.00006853198,0.00004820084],"domain_scores_gemma":[0.9996424,0.00007369887,0.0001457959,0.00002976131,0.00003194113,0.00007645082],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0004973984,0.00008215746,0.1132248,0.0002495429,0.0001161256,0.7076449,0.000620922,0.0003994978,0.1538458,0.00132637,0.001997967,0.01999463],"study_design_scores_gemma":[0.00002207108,0.00009593266,0.08739466,0.00004138761,0.00007476952,0.8958152,0.0002128938,0.0005967963,0.01211833,0.0005291142,0.003076617,0.00002215053],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9818255,0.002191205,0.003192226,0.0003864164,0.00005755198,0.00009276738,0.0008214049,0.000204187,0.01122876],"genre_scores_gemma":[0.9980672,0.0002523493,0.0005704846,0.00006415675,0.00001633732,0.000006309403,0.0001726338,0.00001403251,0.000836599],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004145633,"threshold_uncertainty_score":0.01386851,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004823598642128736,"score_gpt":0.2306203757400004,"score_spread":0.2257967770978717,"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."}}