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• Mesothelioma_Whole_Genomes

  Genomic architecture of mesothelioma parent study is project 925. This project is set up in parallel to project 925 in order to Whole genome sequence ten of the 59 tumours in that project.

  Study EGAS00001000830

• Control human putamen and Substantia Nigra

  The study is affiliated to the UKBEC sample of healthy human putamen and substantia nigra phenotype. The gender is from both male and female samples of the the phenotype.

  Study EGAS00001003065

• Next Generation Mendelian Genetics: Auriculocondylar syndrome (ACS)

  This project is part of an ongoing project to identify the molecular genetic basis of rare craniofacial disorders. This specific project involved the collection of DNA samples from four probands with severe manifestations of auriculocondylar syndrome and their parents. Detailed clinical phenotypic data is available on each proband. The sole purpose of this research is to identify the molecular cause(s) of auriculochondylar syndrome.

  Study phs000437

• Sequencing data for oesophageal and related samples - ICGC DCC release 28 earmarked (WGS)

  WGS sequencing for 43 cases (86 samples) from the ICGC ESAD-UK project Tumours 50x Normals 30x HiSeq X BAM files These samples are earmarked for inclusion in ICGC release 28

  Dataset EGAD00001004029

• The Etiological Bases of Giftedness: Epidemiological Study of Cognitive Ability in Children in Saudi Arabia

  Recent studies of genetic foundations of cognitive ability rely on large samples (hundreds of thousands) of individuals from relatively outbred populations of mostly European ancestry. Hypothesizing that the genetic foundation of cognitive ability depends on the broader population-specific genetic context, we performed a genome-wide association study and homozygosity mapping of cognitive ability estimates obtained through latent variable modeling in a sample of 354 children from the consanguineous population of Saudi Arabia. Approximately half of the sample demonstrated significantly elevated homozygosity levels indicative of inbreeding, and among those with elevated homozygosity, it was negatively associated with cognitive ability. Further homozygosity mapping identified a specific run, inclusive of the GRIA4 gene, that survived corrections for multiple testing for association with cognitive ability. The results suggest that in a consanguineous population, a notable proportion of the variance in cognitive ability in the normal range in children might be regulated by population-specific mechanisms such as patterns of elevated autozygosity.

  Study phs001884

• Genomic Landscape of Apical Periodontitis

  We undertook the first genome-wide association (GWAS) study of apical periodontitis, enrolling 932 patients with deep carious lesions at UTHealth School of Dentistry and the University of Pittsburgh School of Dental Medicine. We used a case-control design to compare those with apical periodontitis to those without. Genotype data was generated for all participants and imputed using the TOPMed reference panel. We performed a single-variant association testing, a subphenotype analysis, and a genetically regulated expression association analysis, and generated a polygenic risk score and performed phenome-wide association analysis. We identified eight near-genome-wide significant loci for our primary outcome, eight genes where genetically regulated expression was associated with apical periodontitis status, and 33 phecodes that were associated with the generated polygenic risk score. We also replicated three loci previously reported in the literature. Genotype, phenotype, and results from the primary association analysis will be available via dbGaP.

  Study phs003252

• DNA sequencing of sgRNAs enriched from the CRISPR-Cas9 screened HCC organoids

  There are 12 samples. The project aims to find enriched or depleted sgRNAs to identify functional genes in HCC progression and lenvatinib resistance

  Study EGAS50000001130

• scRaCH-seq fastq files

  We base called the raw data of nanopore sequencing using the Guppy software (v3.1.5) with “dna_r9.4.1_450bps_sup_prom.cfg” configuration. The passed reads (Qscore > 9) are deposited in this EGA study.

  Study EGAS50000000165

• Genome-wide association study of never-smoking non-drinking young adults developing oral squamous cell carcinoma

  This study aims to evaluate if rare germline variants are associated with never-smoking non-drinking young adults oral squamous cell carcinoma.

  Study EGAS50000001809

• Chromatin_Profiling_in_Twins

  50 lymphoblastoid cell lines of adult female Twins which are part of the MuTHER study, processed with the FAIRE assay in order to generate maps of open chromatin.

  Study EGAS00001000097