EGAGenomicsN/Ahttps://ega-archive.org/datasets/EGAD000010060651EGA dataset EGAD00001006065EGAVasp, VASP, Data Set., DmelCG15112, ENHANCER OF ATNSI ACTIVITY, MENA, NDPP1, l(2)02029, Enb, enb, ENA, Ena, CG15112, ENA/VASPPilot, Voltage-gated calcium channel subunit alpha Cav1.2, other disease, Allelomorphs, ERYF1, Antemortem Diagnosis, Materials, c-mpl-II, number, RBC, Gene, NF-E1 DNA-binding protein, Diagnosis, presence, actin-related protein C1B, L72, L type, diseases, Associations, Core Genome, Calcium channel, Mass, symptoms, Studies, Screening, disease or disorder, Project, diseases and disorders, GF1, eryf1, arpc1b, c-mpl, Antemortem, Blood Corpuscle, Trait, Gata1, Orphan Disease, study, human disease, anatomical systems, Genetic, GATA-1, MPLV, Genomes, red blood corpuscle, p41-arc, xgata1, AA571392, GATA1, AA408064, Accessory Genome, Diagnoses and Examinations, XLTT, 41kDa, non-neoplastic, genetic, Allelomorph, NFE1, Study, Pilot Project, Clients, AW208418, p41-ARC, Red, disorder, Allele, Homo sapiens disease, D3Ertd775e, ARPC1, GATA-binding factor 1, TPOR, constitutitional genetic, transcription from bacterial-type RNA polymerase promoter, Diagnose, gata1a-A, Gata-1, F16D14.14, Antemortem Diagnoses, screening, WGS, ACTIN-RELATED PROTEIN C1, Disease, LAB300, findings, Lba, LBA, disorders, familial, F16D14_14, gata1, Red Blood Cell, ARC41, medical condition, Cistrons, Client, Pangenome, Examination and Diagnoses, cardiac muscle, TPO-R, Diagnoses, count in organism, THCYT2, AA408534, XLTDA, BGL, Postmortem, Screenings, NF-E1, Mass Screenings, hlb219, Examinations and Diagnoses, Diseases, Genetic Materials, condition, Red Blood Corpuscle, XLANP, rare (European definition), Postmortem Diagnosis, C-MPL, Genetic Material, c-mpl-I, Rare Disease, CD110, Diagnoses and Examination, Blood Cells, red blood cell count, p40-arc, Gf-1, Blood Cell, arc41, Postmortem Diagnoses, Projects, SOP2Hs, CDC4L, Tails, erythrocyte number, red blood cell, Lab300, signs, C80285, Eryf1, whole genome, alpha-1 polypeptide, AF007010, Rat brain class C, Orphan, GF-1, disease, Red Blood Corpuscles, Rare, Pan-genome, Patient, arx-3and3n122, Material, Red Blood Cells, bacterial transcription, xGATA-1, Pilot Study, Erythrocyte, CVID8, Cistron, inherited genetic, Blood Corpuscles, isoform 1, Diagnoses., hereditary, Orphan Diseases, Pilot Studies, p40-ARCfalseena-DATASET-UCAM-GEL-21-04-2020-14:47:59:878-472 - samplesMost patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and mediating genes for more than half such disorders remain to be discovered. We implemented whole-genome sequencing (WGS) in a national healthcare system to streamline diagnosis and to discover unknown aetiological variants, in the coding and non-coding regions of the genome. In a pilot study for the 100,000 Genomes Project, we generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065 patients with detailed phenotypic data. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed aetiological. Using WGS of UK Biobank1, we showed that rare alleles can explain the presence of some individuals in the tails of a quantitative red blood cell (RBC) trait. Finally, we reported 4 novel non-coding variants which cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare.2020-05-18 10:51:47EGAD000010060659606EGAC00001000259EGAS00001004364