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• Differentially methylated CpGs in response to growth hormone administration in children with idiopathic short stature

  Background: Recombinant human growth hormone (rhGH) has shown a great growth-promoting potential in children with idiopathic short stature (ISS). However, the response to rhGH differs across individuals, largely due to genetic and epigenetic heterogeneity. Since epigenetic marks on the methylome can be dynamically influenced by GH, we performed a comprehensive pharmaco-epigenomics analysis of DNA methylation changes associated with long-term rhGH administration in children with ISS. Results: We measured DNA methylation profiles before and after GH treatment (with a duration of ~18 months in average) on 47 healthy children using customized methylC-seq capture sequencing. Their changes were compared and associated with changes in plasma IGF1 by adjusting sex, age, treatment duration, and estimated blood proportions. We observed a considerable inter-individual heterogeneity of DNA methylation changes responding to GH treatment. We identified 267 response-associated differentially methylated cytosines (DMC) that were enriched in promoter regions, CpG islands and blood cell-type specific regulatory elements. Furthermore, the genes associated with these DMCs were enriched in the biology process of "cell development", "neuron differentiation" and "developmental growth", and in the TGF-beta signaling pathway, PPAR Alpha pathway, endoderm differentiation pathway, adipocytokine signaling pathway as well as PI3K-Akt signaling pathway, and cAMP signaling pathway. Conclusion: Our study provides a first insight in DNA methylation changes associated with rhGH administration, which may help understand mechanisms of epigenetic regulation on GH-responsive genes.

  Study EGAS00001006115

• WGS data for ctDNA monitoring for NSCLC in TRACERx

  Ultrasensitive circulating tumour DNA (ctDNA) detection can stratify clinical risk in early-stage non-small cell lung cancer (NSCLC). Here, we applied a whole-genome, tumour-informed approach to study ctDNA in more than 400 NSCLC of the TRACERx project

  Study EGAS50000001187

• Elevated circulating tumor cells reflect high proliferation and genomic complexity in multiple myeloma - RNA validation cohort

  This reposiroty contains bulk RNA data generated by Blood Cancer Research Group (Ostrava, Czech Republic) as a part of publication named "Elevated circulating tumor cells reflect high proliferation and genomic complexity in multiple myeloma" published in Hemapshere.

  Study EGAS50000001212

• Elevated circulating tumor cells reflect high proliferation and genomic complexity in multiple myeloma - WGS validation cohort

  This reposiroty contains bulk WGS data generated by Blood Cancer Research Group (Ostrava, Czech Republic) as a part of publication named "Elevated circulating tumor cells reflect high proliferation and genomic complexity in multiple myeloma" published in Hemapshere.

  Study EGAS50000001211

• A Novel APP p.V742L variant in a patient with ischemic small vessel disease enhances FE65 signalling

  We identified a novel variant in the APP gene associated with cerebral ischemic strokes, which is not seen before with APP variants. This results in increased affinity of APP for FE65, APP’s most important intracellular interactor that regulates gene transcription.

  Study EGAS50000001283

• Transcriptome sequencing, DNA methylation analysis, and SNP array analysis of acute lymphoblastic leukemia in Down syndrome

  Pathogenesis of acute lymphoblastic leukemia in Down syndrome (DS-ALL) is poorly understood. To investigate molecular basis of DS-ALL, we performed whole transcriptome sequencing, DNA methylation array, and SNP array analysis in 43 cases of DS-ALL.

  Study JGAS000147

• Target sequencing of 8 hereditary prostate cancer genes in Japanese

  We performed a case control association study for variants in coding regions of 8 hereditary prostate cancer genes in 7,636 male unselected prostate cancer patients, 12,366 male controls of Japanese ancestry. The 8 genes were ATM, BRCA1, BRCA2, BRIP1, CHEK2, HOXB13, NBN, and PALB2.

  Study JGAS000203

• intratumor heterogeneity in colorectal adenoma and carcinoma

  To investigate intratumor heterogeneity in precancerous lesions of colorectal cancers (PCRCs), we performed whole-exome sequencing of 53 tumor and 10 matched-normal samples from 10 laterally spreading tumors in the colon and rectum, which were histologically diagnosed as adenoma with/without adenocarcinoma.

  Study JGAS000092

• Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

  In this work, using exome sequencing, we identified biallelic PNLPA6 mutations in patients with childhood blindness due to severe photoreceptor death and clinical features of Leber congenital amaurosis (LCA) and, interestingly, also of the rare Oliver McFarlane Syndrome

  Study EGAS00001001013

• Mutational context and diverse clonal development in early and late bladder cancer

  Bladder cancer shows multiple recurrences probably originating from a malignant field disease in the mucosa. Deep sequencing was used on a series of tumors to look into the clonal composition, mutational spectrum in non-aggressive tumors, and mutational context.

  Study EGAS00001000641