{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics","Multiomics"],"dataset_type":["N/A"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00001000744"],"sample_count":["0"],"description":["EGA dataset EGAD00001000744"],"repository":["EGA"],"title":["GoNL release 5 haplotype panel"],"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":["TRAD, cHILD, cou, young adult, pediatric interstitial lung disease, CHD5, l(2)SH2 1908, Step Parents, l(2)SH1908, Parental, pAB, anon-EST:Posey247, compositionality, Tl3, Stepparent, composed of, Tl2, Haplotype, anon-EST:Posey249, Status, DUET, Parenthood, School-Age, Lr, School Age, CHILD, Step-Parents, Step-Parent, Parenthood Status, Low, interstitial lung disease of childhood, Pabp, Stepparents, PABPC1, child, School-Age Populations, ARHGEF24, Populations, Parent, l(2)k10109, dPABP, me75, Genomes, ILD specific to childhood, HAPIP, DmelCG5119, pabp, content, Parental Age, CHDS5, Parental Ages, chILD syndrome, composition, whole genome, Kalirin, Population, PABP, PAbp, Children, paediatric interstitial lung disease, School Age Populations, D17Mit170, sample population, Age, chILD, DUO, Duo, juvenile stage, PABP55B, Chromosome, Ages, children's interstitial lung disease, pABP, BcDNA:LD24412, childhood interstitial lung disease, sample, structure, Bra, T1., School-Age Population, School Age Population, Hapip, CG5119, duo"],"additional_accession":[]},"is_claimable":false,"name":"ena-DATASET-GoNL-20-02-2014-18:09:18:267-201 - samples","description":"The samples in this panel come from 250 families: 248 parents-child trios and 2 parent-child duos. As the children do not provide additional haplotypes or population information, they were excluded from the panel. The samples present in the release are composed of 248 couples, 2 single individuals and 1 sample composed from the 2 haplotypes from the duo's children transmitted by their missing parent.  The composed sample is named gonl-220c_223c.\n\nThe files contain a total of 18.9M SNVs and 1.1M INDELs in autosomal chromosomes. They were generated by phasing/imputing the SNVs (a) and INDELs (b) using MVNCall. Only sites passing filters are reported. Sites filtered as part of the GoNL inaccessible genome were kept (but flagged as filtered) and still may contain true positive calls but should be used with care as they are located in parts of the genome that are less well captured (systematic under or over-covered or low-mapping quality)","dates":{"updated":"2022-10-05 10:31:07"},"accession":"EGAD00001000744","cross_references":{"TAXONOMY":["9606"],"EGA":["EGAC00001000146","EGAS00001000644"]}}