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• WGSPD Project 3 - Genomic Strategies to Identify High-impact Psychiatric Risk Variants

  Study EGAS00001004838

• Genomic Landscape of Pediatric Myelodysplastic Syndromes

  Pediatric myelodysplastic syndromes (MDS) are a rare disease and unlike their adult counterpart, very little is known about their genomic landscape. We characterized a cohort of patients from a single institution by whole exome sequencing, as well as a subset of patients by whole genome sequencing, RNA-sequencing and targeted deep sequencing. We found a spectrum of mutations, both somatic and germline, that are distinct from those observed in adult MDS. In turn, we observed mutations commonly observed in other pediatric myeloid tumors.

  Study EGAS00001002202

• Genomic analysis for intrahepatic cholangiocarcinoma

  Intrahepatic cholangiocarcinomas (iCCs) are characterized by their rarity, difficulty in diagnosis, and overall poor prognosis. We performed comprehensive genomic characterization of treatment-naive iCC. This study reports a large-scale genomic analysis of iCC. The findings could assist in patient stratification with iCCs and in developing rational therapeutic strategies.

  Dataset EGAD00001008557

• Somatic_mutation_in_edited_cholangiocyte_organoids__Targeted_NanoSeq_

  Characterisation of mutation rates and patterns in edited human cholangiocyte organoids (Targeted NanoSeq)

  Study EGAS00001007266

• Somatic_mutation_in_edited_cholangiocyte_organoids_NanoSeq

  Characterisation of mutation rates and patterns in edited human cholangiocyte organoids (NanoSeq)

  Study EGAS00001006405

• CUT&RUN in G3-MB

  Aligned BAM files from CCUT&RUN sequencing for BRD4 and H3K27ac in Group 3 Medulloblastoma cell models.

  Dataset EGAD50000002301

• OA Functional Genomics

  Functional genomics approaches to understand osteoarthritis

  Dataset EGAD00010001746

• RNA sequencing of subchondral bone from patients that underwent a joint replacement surgery due to osteoarthritis.

  Study EGAS00001004476

• Isolation of bacteria in infected brains in patients with Parkinsons disease. Here we used next generation sequencing of 16S ribosomal RNA gene PCR amplicons (NGS 16S amplicon analysis).

  Dac EGAC00001001197

• Deep RNA sequencing in CLL

  Deep RNA sequencing in CLL

  Dataset EGAD00001000258