EGAGenomicsIllumina HiSeq 2500;https://ega-archive.org/datasets/EGAD000010027364EGA dataset EGAD00001002736EGAVasp, VASP, Data Set., DmelCG15112, ENHANCER OF ATNSI ACTIVITY, MENA, NDPP1, l(2)02029, Enb, enb, ENA, Ena, CG15112, ENA/VASPBru, human being, BamF, bim, biml, Raw, BamC, bam, SCF receptor activity, VAC4, Mini Exon, Xkl-1, 2610511A05Rik, aligned, Human, BB234005, fs(3)neo61, Mutations, CG10422, KL receptor activity, Gsfsco1, Homo sapiens, scfr, Mini-Exon, p150, SCO5, bim-beta7, SCO1, Del(8)44H, DmelCG10422, Gsfsow3, SCFR, Gsfsco5, Man, SOW3, Svc, Brothers, WES, Fdc, Man (Taxonomy), HCAP, bim-beta6, Ciliopathy, W, CDLS3, VPS15, BMH, Golgi ribbon, BMH., Protein G18, Bs, 2210010O15Rik, CSPG6, Sl, BACTS2, ahl4, proto-oncogene c-Kit, Modern, Tr-kit, ham, aligned to, Brother, BOD, C85833, VPL19, PBT, ciliopathies, KIT ligand receptor activity, Cis, CIS, G18, kl1-A, bod, KIT, bimel, C730038E05Rik, GRD8, XKrk1, tyrosine-protein kinase Kit, CIS-1, pbt, c-KIT, Col4a-1, Sibling, exonic region, Mini-Exons, Exon, 9030605P22Rik, kit, alpha, CD117, Sister, human, D9Ertd418e, c-kit, BIM, C-Kit, SOCS, Bam-C, Ssm, Modern Man, BAM, Bam, xkl-1, SMC3L1, Sisters, VPS40, Suppressor of cytokine signaling, krk1falseena-DATASET-U1112-11-10-2016-17:37:16:253-103 - samplesWES of human: A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi WES (Agilent SureSelect All Exon XT2 50 Mb kit) has been realized on three affected siblings (II.1, II.3, II.5) and one healthy sister (II.4). Raw data (BAM files) are provided: - II.1.aligned.sorted.dedup.realign.recal.bam - II.3.aligned.sorted.dedup.realign.recal.bam - II.5.aligned.sorted.dedup.realign.recal.bam - II.4.aligned.sorted.dedup.realign.recal.bam2017-07-26 15:39:29EGAD000010027369606EGAC00001000552EGAS00001002075