{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"dataset_type":["N/A"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00001006123"],"sample_count":["33"],"description":["EGA dataset EGAD00001006123"],"repository":["EGA"],"title":["3q-capture DNA sequencing of atypical 3q26 cases"],"name_synonyms":["Vasp, hemophilia, hemophilia A, DmelCG15112, ENHANCER OF ATNSI ACTIVITY, classical hemophilia, classic hemophilia, factor 8 deficiency, Data Set, autosomal haemophilia a, 2-hydroxyethyl methacrylate, NDPP1, F8C, F8B, AHF., Haemophilia A, haemophilia A, l(2)02029, enb, hem A, FVIII, VASP, classic haemophilia, DXS1253E, congenital, Historesin, 2-propenoic acid, MENA, HEMA, classic, 2-methyl-, Enb, ENA, Ena, autosomal hemophilia a, CG15112, 2-hydroxyethyl ester, glycol methacrylate, classical haemophilia, ENA/VASP"],"description_synonyms":["Medical Device, Apparatus and Instruments, Inventories, DNS, GRP1/cytohesin 1, Edg, (Deoxyribonucleotide)n, Medical Devices, Devices, Sequence Determination, fractured, DNAn+1, split, stepk, aligned to, Double-Stranded, Oligonucleotide, aligned, fragmented, Deoxyribonucleic acids, Determinations, gDNA, Human, (Deoxyribonucleotide)n+m, CG11633, cytohesin/GRP1, Device, Deoxyribonucleic Acid, Human Genome, DNA Sequencing, GRP1, Grp1, DNA Sequence Determinations, 3.1.3.48, hemorrhaged, Supplies and Equipment, Ligature, DNA Sequence, Analysis, ds-DNA, desoxyribose nucleic acid, Medical, l(2)SH0323, END, Library, Inventory, DNA sequencing, Genomes., CYH1, torn, thymus nucleic acid, Ligatures, Analyses, instrument, Genomes, Determination, Step, CG11628, cracked, PTPSTEP, Instruments and Apparatus, l(2)SH2 0323, Double Stranded, Deoxyribonucleic acid, Striatum-enriched protein-tyrosine phosphatase, whole genome, Sequence Determinations, Supplies, HiSeq 2500, Sequencing, sample population, DNA Sequence Determination, DmelCG11628, Solution, Ligations, DNA Sequence Analysis, DNA Sequence Analyses, Neural-specific protein-tyrosine phosphatase, Human Genomes, STEP, l(2)k08110, sample, ds DNA, Desoxyribonukleinsaeure, Equipment, Double-Stranded DNA, (Deoxyribonucleotide)m, DNA, deoxyribonucleic acids, DNAn, ORW1, HHT1, GPH, Sequence Analyses"],"additional_accession":[]},"is_claimable":false,"name":"ena-DATASET-ErasmusMC-hema-08-05-2020-13:39:57:784-17 - samples","description":"3q-capture DNA sequencing was performed as we described previously 13. In summary, genomic DNA was fragmented using the Covaris shearing device (Covaris), and sample libraries were assembled following the TruSeq DNA Sample Preparation Guide (Illumina). After ligation of adapters and an amplification step, target sequences of chromosomal regions 3q21.1-q26.2 were captured using custom in-solution oligonucleotide baits (Nimblegen SeqCap EZ Choice XL). The design of target sequences was based on the human genome assembly hg19: chr3q21.1:126036241-130672290 - chr3q26.2:157712147-175694147. Amplified captured sample libraries were paired-end sequenced (2x100 bp) on the HiSeq 2500 platform (Illumina) and aligned against the hg19 reference genome using the Burrows-Wheeler Aligner (BWA)25","dates":{"updated":"2020-05-21 04:51:49"},"accession":"EGAD00001006123","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAC00001000162","EGAS00001004325"]}}