{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00005799337,0.00008733082,0.00008088326,0.00004656418,0.00004597455,0.00001757898,0.00004404501,0.00007111418,0.00000378347],"category_scores_gemma":[0.00003025145,0.00008874914,0.00005803763,0.00009463231,0.00002817002,0.000002381932,0.00002794688,0.00004478695,0.000002433186],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003319961,"about_ca_system_score_gemma":0.00002942044,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005949651,"about_ca_topic_score_gemma":0.0001579395,"domain_scores_codex":[0.9995242,0.00002102803,0.0001137019,0.0001668847,0.00005730996,0.0001168589],"domain_scores_gemma":[0.9997502,0.00004057722,0.00001910778,0.0001184069,0.00004388955,0.00002781831],"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":[0.000006157706,0.000005126674,0.00004749728,0.00004910524,0.00004020936,0.00000576603,0.0001212729,0.1410509,0.7993365,0.000005129791,8.725311e-7,0.05933145],"study_design_scores_gemma":[0.00007988496,0.00007311536,0.0001178116,0.00002075993,0.00003971164,0.00006292208,0.0001925098,0.1583516,0.8394531,0.00005584394,0.001454364,0.00009838714],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6976917,0.003693556,0.2981187,0.000004027199,0.0001981811,0.0002189837,0.000006474196,0.00001822095,0.00005012204],"genre_scores_gemma":[0.9987386,0.00006404999,0.0009415555,0.00001145329,0.000136874,0.00003318334,0.00002092207,0.00001887229,0.00003449196],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3010469,"threshold_uncertainty_score":0.3619085,"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."}}