{"id":"W4398143392","doi":"10.3390/genes15050646","title":"Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel","year":2024,"lang":"en","type":"article","venue":"Genes","topic":"CRISPR and Genetic Engineering","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Ministry of Health, State of Israel; Israel Science Foundation; Foundation Fighting Blindness","keywords":"Genetics; DNA sequencing; Biology; Amplicon; Mutation; Mendelian inheritance; Deep sequencing; Founder effect; Sanger sequencing; Gene; Genotype; Polymerase chain reaction; Genome; Haplotype","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":[0.0008584093,0.0007517403,0.000714952,0.001021317,0.0002905778,0.0006795698,0.0006290124,0.0007327537,0.001829561],"category_scores_gemma":[0.0012007,0.0005456575,0.00054656,0.0004145867,0.0003677517,0.000406811,0.001746391,0.001068773,0.001136942],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000442205,"about_ca_system_score_gemma":0.0004716401,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000731578,"about_ca_topic_score_gemma":0.002303633,"domain_scores_codex":[0.9983247,0.0002508467,0.0001045569,0.0005789964,0.0005671103,0.0001737925],"domain_scores_gemma":[0.9992119,0.0002828179,0.0001439778,0.0001251094,0.0001251399,0.0001109465],"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":[0.0001828657,0.00007525441,0.004925692,0.0001700685,0.0001184949,0.0003489485,0.0001015243,0.002482414,0.9178447,0.0005706784,0.001853347,0.07132607],"study_design_scores_gemma":[0.00006099972,0.0003149271,0.0145797,0.0000569263,0.0001526583,0.002564766,0.00008175246,0.03031754,0.9296054,0.001014534,0.02115092,0.00009981115],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.4796308,0.001905287,0.4948659,0.0005059226,0.000164359,0.0006079223,0.007145411,0.005054286,0.01012011],"genre_scores_gemma":[0.6015651,0.0009685278,0.3818303,0.0008885897,0.00003441318,0.0007459779,0.008156472,0.0006207732,0.005189735],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.001829561,"threshold_uncertainty_score":0.006120503,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02141530426542451,"score_gpt":0.3249126198553258,"score_spread":0.3034973155899013,"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."}}