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• HNF1A haploinsufficiency causes decreased insulin expression, dysregulation of pancreatic progenitor signature genes and affects chromatin accessibility

  HNF1A haploinsufficiency causes decreased insulin expression, dysregulation of pancreatic progenitor signature genes and affects chromatin accessibility

  Dataset EGAD00001011374

• Pathology and tumor biology DAC

  Dac EGAC00001001287

• Senior Director, Grants and Contracts

  Dac EGAC00001003387

• FOCUS study

  Shallow whole genome sequencing of adavanced colorectal tumors from patients included in the FOCUS clinical trial. Performed to calculate assocations of irinotecan with copy-number alterations. Copy number aberration analysis of 349 enroled patients.

  Dataset EGAD50000001007

• RP3_Freeze_1

  Freeze 1 of the RP3 project

  Dataset EGAD00010000887

• EGAD00000000057

  WTCCC project samples from the Parkinson's disase cohort

  Dataset EGAD00000000057

• Anaplastic Thyroid Cancer somatic variants (SomaticSniper)

  Sequence was aligned to the GRCH38 reference genome. Aligned sequence was analyzed with SomaticSniper. Somatic variant calls are in VCF format. In total there are 94 tumour samples, each with a matched normal.

  Dataset EGAD00001004128

• HIPO blastemal Wilms (nephroblastoma) CHIP sequencing samples

  HIPO blastemal Wilms (nephroblastoma) characterisation of tumor driving events caused by differential SIX1 binding of the SIX1 Q177R mutatns

  Dataset EGAD00001000992

• Whole exome sequencing of Finnish hereditary breast cancer families

  Dataset contains Whole Exome Sequencing(WES) data from 37 individuals as aligned bam-files. The reads have been aligned using bowtie2 to human genome hg19 build.

  Dataset EGAD00001002133

• cHCC-ICC WES

  The whole exome sequencing data of 291 tumor/normal samples from 121 cHCC-ICC cases.

  Dataset EGAD00001005183

• postcovid19

  contain the raw data from scRNA, scATAC, genotyping.

  Dataset EGAD00001008122

• Germline WES data of parents whose children have germline CHEK2 mutations

  This data set includes bam files (aligned to hg38) from the germline of parents whose children have CHEK2 germline mutations.

  Dataset EGAD00001009516

• Germline WES data of children with pathogenic mutations in cancer predisposing genes

  This data set includes bam files (aligned to hg38) from the germline of children who have pathogenic mutations in cancer predisposing genes

  Dataset EGAD00001009854

• Pathology and tumor biology DAC

  Dac EGAC00001003221

• CDH Asian Head and Neck Angiosarcoma

  Dac EGAC00001003145

• Relapsed and Primary Neuroblastoma DAC

  Dac EGAC00001000373

• Illumina - Population and Medical Genomics Group

  Dac EGAC00001000686

• ICR_Evolutionary Genomics and Modelling

  Dac EGAC00001001050

• RNAseq intra- and extracranial ECs DAC

  Dac EGAC00001001622

• Gene expression and Cancer

  Dac EGAC00001001772

• Neuroblastoma and cell migration DAC

  Dac EGAC00001001965

• Genome-wide data Resande and Swedes

  Dac EGAC00001002627

• INSERM U944 Team Genome and Cancer

  Dac EGAC00001002976

• Cell-free DNA sequencing using newly developed single-strand DNA library preparation

  We performed whole genome sequencing of cell-free DNA that was collected from human plasma using an improved cfDNA purification protocol and DNA library prepared with newly developped protocol of our own.

  Study JGAS000257

• Whole genome sequencing data of relapsed paediatric KMT2A-rearranged acute lymphoblastic leukemia

  Whole genome sequencing data of relapsed KMT2A-rearranged leukemia. Dataset includes bam-file of released case. Diagnostic (ALLT-375D) and remission (ALLT-375R) samples can be found with EGA ID: EGAD50000001568.

  Study EGAS50000001100