{"id":"W2087342131","doi":"10.1038/sj.ejhg.5200798","title":"Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene","year":2002,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Blood disorders and treatments","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"Natural Sciences and Engineering Research Council of Canada; Canadian Institutes of Health Research","keywords":"Locus (genetics); Genetics; Biology; Haplotype; Exon; Gene; Candidate gene; Chromosomal region; Gene mapping; Genetic linkage; Molecular biology; Genotype; Chromosome","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":[0.0003852856,0.0006975494,0.0005101818,0.001484638,0.000520721,0.0003616621,0.0006889527,0.001049088,0.003056962],"category_scores_gemma":[0.00102057,0.0002906243,0.0004762516,0.0005697523,0.0008237353,0.0002514686,0.0006402755,0.0007232753,0.0002751445],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002220917,"about_ca_system_score_gemma":0.0003346408,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001881262,"about_ca_topic_score_gemma":0.002669716,"domain_scores_codex":[0.9996377,0.00004852013,0.00003943226,0.0001111676,0.0001076439,0.00005548713],"domain_scores_gemma":[0.999298,0.0003972762,0.0001014549,0.00005114262,0.00004871006,0.0001034291],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001793394,0.0002539736,0.08686345,0.0001540312,0.0002709915,0.07502749,0.0008313084,0.001662458,0.8003923,0.004509064,0.0006137308,0.02762777],"study_design_scores_gemma":[0.00094474,0.001398967,0.4838963,0.0001135733,0.0009921007,0.235477,0.001162775,0.01207009,0.2478857,0.006720458,0.009231073,0.0001072261],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959636,0.0003671267,0.00221765,0.0001721107,0.00001442103,0.00001437439,0.00019861,0.00002904417,0.001023154],"genre_scores_gemma":[0.9969119,0.0001873639,0.002046596,0.0000454088,0.00001467142,0.00001380877,0.0002004509,0.00001108841,0.0005687612],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003056962,"threshold_uncertainty_score":0.01022661,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0154324508440365,"score_gpt":0.2279464689012659,"score_spread":0.2125140180572294,"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."}}