{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"dataset_type":["NextSeq 500;ILLUMINA"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00001003595"],"sample_count":["55"],"description":["EGA dataset EGAD00001003595"],"repository":["EGA"],"title":["The data used in Vermeulen et al. 2017 American Journal of Human Genetics"],"name_synonyms":["Vasp, VASP, Data Set., DmelCG15112, ENHANCER OF ATNSI ACTIVITY, MENA, NDPP1, l(2)02029, Enb, enb, ENA, Ena, CG15112, ENA/VASP"],"description_synonyms":["Bru, d230, CFTR|MRP, DNS, Raw, (Deoxyribonucleotide)n, region or site annotation, Sequence Determination, number, Privacy, dJ760C5.1, PL93 579, dTAFII250, CG30327, EfW1, Pregnancies, Deoxyribonucleic acids, Status, beta-globin, Relative, dmTAF[[II]]230, CG11478, PREGN, Deoxyribonucleic Acid, dmTAF1, Taf230, Parenthood Status, Abcc7, channel-conductance-controlling ATPase activity, Del(8)44H, Analysis, TNR-CFTR, Stepparents, CFTR, TAF250, Svc, DmelCG42257, Taf200, positional, thymus nucleic acid, dTAF[[II]]250, TFIID TAF250, Analyses, cel, Determination, cell, gravid, PL 93 579, Double Stranded, Public Law 93-579, Taf1p, Law 93-579, Deoxyribonucleic acid, Privacy Act, Sequence Determinations, free, Sequencing, dTAF250, DNA Sequence Analysis, CF, PL 93-579, geographical area, MRP7, Ages, 65K, Clients, sample, CG42257, Dmel_CG30327, Act, Double-Stranded DNA, snp, (Deoxyribonucleotide)m, deoxyribonucleic acids, DNAn, TAF, cystic fibrosis transmembrane conductance regulator, Father, Sequence Analyses, PL93-579, Public Law 93 579, cg11478, dTAF[[II]]230, TAF[[II]]250, Data Set, CFTR/MRP, cAMP-dependent chloride channel, Step Parents, DNAn+1, Parental, TAF200, l(3)84Ab, ABC35, BG:DS00004.13, Double-Stranded, TAFII-250, TAF250/230, pregnant adult, Stepparent, Client, Cell, Determinations, pregnant, dTAF230, (Deoxyribonucleotide)n+m, Parenthood, ABCC7, TAFII250, CD113t-C, Public, p230, DNA Sequencing, CG6393, Relative Risks, Step-Parents, DNA Sequence Determinations, TAF[[II]]250/230, sequence, Step-Parent, TFIID, overlap, ATP-binding cassette sub-family C member 7, Channel conductance-controlling ATPase, DNA Sequence, ds-DNA, desoxyribose nucleic acid, Relative Risk, DNA sequencing, Taf[[II]]250, Dmel_CG6393, Parent, TAF[[II]]230, Col4a-1, positional polypeptide feature, Risk, Gestation, Parental Age, Risks, Parental Ages, TAF[II]250, patient, CG17603, TAF[[II]], primary structure of sequence macromolecule, sample population, Age, DNA Sequence Determination, DmelCG17603, DNA Sequence Analyses, Taf250, Patient, SR3-5, ds DNA, cardinality, Desoxyribonukleinsaeure, primary structure of sequence macromolecule., 3.6.3.49, DNA, AW495489, TAF230, TAF1"],"additional_accession":[]},"is_claimable":false,"name":"ena-DATASET-HI-29-08-2017-10:48:07:496-36 - samples","description":"This dataset consists of TLA data in the parents of 9 healthy families and 11 B-thalasemia risk families during pregnancy, cell-free DNA sequencing data and Fetal DNA sequencing where available.\n\nTLA data was collected for the CFTR region in all healthy families and the CYP21A2 region in two of the healthy families.\nTLA data was collected for the HBB region in the risk families.\nIn each pregnant mother, cell-free DNA was collected, enriched for the region of interest using sureselect pulldown and sequenced.\nSamples are labled Mother_X, Father_X and CVS_X for the healthy families and HBB_Mother_X, HBB_Father_X and HBB_CVS_X.\ncfDNA files can be found under the maternal sample, and each consist of three indices used to increase the maximum number of unique molecules per SNP.\nBoth raw and processed cfDNA data is provided, raw data is mapped using BWA MEM, sorted using samtools and restricted to the region of interest for the sake of patient privacy.\nProcessed data is mapped using BWA MEM, sorted using samtools, duplicate filtered using samtools rmdup, overlap-clipped using picardtools and restricted to the region of interest.","dates":{"updated":"2020-09-22 11:23:04"},"accession":"EGAD00001003595","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAC00001000432","EGAS00001002622"]}}