{"id":"W2170307781","doi":"10.1101/gr.144600.112","title":"Sequencing of isolated sperm cells for direct haplotyping of a human genome","year":2013,"lang":"en","type":"article","venue":"Genome Research","topic":"Chromosomal and Genetic Variations","field":"Agricultural and Biological Sciences","cited_by":81,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Haplotype; Biology; Genetics; Genome; Genotyping; Human genome; Chromosome; Single-nucleotide polymorphism; Whole genome sequencing; Population; Haplotype estimation; Ploidy; Human genetics; Genotype; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0004994554,0.0000717635,0.000177724,0.00003694115,0.0002198474,0.00002694634,0.0002686743,0.0000640422,0.001147986],"category_scores_gemma":[0.00004136915,0.00003126848,0.00008486869,0.0004437674,0.00009138317,0.00004810987,0.0001070178,0.00008839994,0.00004580812],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004352195,"about_ca_system_score_gemma":0.00002510309,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001262052,"about_ca_topic_score_gemma":0.0001810349,"domain_scores_codex":[0.9988782,0.00008306496,0.0002560485,0.0002059865,0.0002350088,0.0003416428],"domain_scores_gemma":[0.9991686,0.000245399,0.00004842222,0.00007734203,0.0003807189,0.00007954677],"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":[0.000005797432,0.00003644529,0.0002240057,0.00002954018,0.00001492961,1.98893e-7,0.0002691862,0.00001870152,0.9978247,0.0001264368,0.00001371446,0.001436322],"study_design_scores_gemma":[0.0005984598,0.00329612,0.3459689,0.000100962,0.00002801868,0.000004952817,0.002091863,0.001406168,0.6292213,0.008561321,0.008217452,0.0005044547],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967664,0.0002303568,0.000008149495,0.0002251344,0.00001827829,0.0005825551,0.00007358297,0.00001398768,0.002081586],"genre_scores_gemma":[0.9988812,0.00003464925,0.0002284923,0.000007483608,0.0001163976,0.00004891917,0.00003846143,0.000001405765,0.0006430251],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3686034,"threshold_uncertainty_score":0.9997651,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1062573218777653,"score_gpt":0.3153456206385218,"score_spread":0.2090882987607565,"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."}}