{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"contact_person":["Aarno Palotie"],"full_dataset_link":["https://ega-archive.org/dacs/EGAC00001000001"],"host":["EGA"],"description":["EGA DAC EGAC00001000001"],"repository":["EGA"],"email":["ap8@sanger.ac.uk"],"pubmed_abstract":["Sequencing the coding regions, the exome, of the human genome is one of the major current strategies to identify low frequency and rare variants associated with human disease traits. So far, the most widely used commercial exome capture reagents have mainly targeted the consensus coding sequence (CCDS) database. We report the design of an extended set of targets for capturing the complete human exome, based on annotation from the GENCODE consortium. The extended set covers an additional 5594 genes and 10.3 Mb compared with the current CCDS-based sets. The additional regions include potential disease genes previously inaccessible to exome resequencing studies, such as 43 genes linked to ion channel activity and 70 genes linked to protein kinase activity. In total, the new GENCODE exome set developed here covers 47.9 Mb and performed well in sequence capture experiments. In the sample set used in this study, we identified over 5000 SNP variants more in the GENCODE exome target (24%) than in the CCDS-based exome sequencing."],"pubmed_title":["The GENCODE exome: sequencing the complete human exome."],"pubmed_authors":["Coffey Alison J AJ, Kokocinski Felix F, Calafato Maria S MS, Scott Carol E CE, Palta Priit P, Drury Eleanor E, Joyce Christopher J CJ, Leproust Emily M EM, Harrow Jen J, Hunt Sarah S, Lehesjoki Anna-Elina AE, Turner Daniel J DJ, Hubbard Tim J TJ, Palotie Aarno A"],"name_synonyms":["Pilot, PILOT, Exomes, Co-Pilot, Co Pilot, whole exome, EGR-3, Aviator, Aviators, Co-Pilots."],"pubmed_title_synonyms":["Human, Exomes, whole exome, human being, Man (Taxonomy), Homo sapiens, whole exome., Man, Modern Man, human, Modern"],"pubmed_abstract_synonyms":["whole exome, other disease, IPP2A2, human being, Materials, FESTA-L, FESTA-S, low frequency, CDS, Gene, Progress Reports, Development, CG30327, PHAPII, Human, 5730420M11Rik, CG11478, Investigative, diseases, Homo sapiens, Summary Report, Consensus, disease or disorder, diseases and disorders, AW048865, Whole Transcriptome, Transcriptome Sequencing, Summary Reports, Man, U19, study, SET, DmelCG42257, BM040, WES, human disease, Complete, Exome Sequencings, Man (Taxonomy), Genetic, Genomes, Progress Report, TAF-I, Complete Exome Sequencing, Whole Transcriptome Sequencing, ipp2a2, 2pp2a, CG10574, Sequencing, non-neoplastic, DmelCG4299, Progress, IGAAD, set, Whole Exome, Field Reports, 2PP2A, Human Genomes, DmelCG10574, taf-ibeta, 65K, sample, Whole, CG42257, Dmel_CG30327, dSET, dSet, disorder, Homo sapiens disease, Consensus Development, snp, Investigative Reports, Complete Exome., infrequent, phapii, cg11478, Complete Exome Sequencings, protamine kinase activity, Traits, Modern, Exome, disorders, igaad, StF-IT-1, medical condition, Cistrons, creatine deficiency syndrome, group, Exome Sequencing, Human Genome, Investigative Report, I-2PP2A, CG6393, Research Reports, Dm I-2, I2PP2A, Diseases, sequence, condition, Genetic Materials, rare (European definition), Genetic Material, Data Base, Dmel_CG6393, Complete Transcriptome, Complete Transcriptome Sequencing, HLA-DR-associated protein II, ensemble, DI-2, I-2Dm, Field, Exomes, CG4299, ion channel activity, TRAITS, primary structure of sequence macromolecule, human, sample population, I-2PP1, disease, dSET/TAF-Ibeta, Report, 2610030F17Rik, TAF-IBETA, Reports, Material, Festa, cerebral creatine deficiency syndrome, Modern Man, Whole Exome Sequencing, CCDS, Cistron, TAF-Ibeta, Summary, AA407739, i2pp2a, Transcriptome Sequencings, Field Report"],"additional_accession":[]},"is_claimable":false,"name":"Gencode Exome Pilot","description":"Data Access Committee EGAC00001000001","dates":{"output":"2025-1-9"},"accession":"EGAC00001000001","cross_references":{"TAXONOMY":["9606"],"pubmed":["21364695"],"EGA":["EGAS00001000016","EGAD00001000003"]}}