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• Homozygous IL37 mutation leads to infantile inflammatory bowel disease

  Whole-exome sequencing of a trio (parents and offspring) reveals IL37 mutation leads to infantile IBD.

  Study phs002040

• Observational study on the immune responses acquired by COVID-19 convalescent individuals

  We performed whole exome sequencing and microarray genotyping analysis of rare disease A two patients. .....

  Study JGAS000563

• WTCCC2 Ischaemic Stroke study

  Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke

  Study EGAS00000000103

• CIRCLE-seq of PDAC PDO

  CIRCLE-seq was performed on a PDAC PDO to validate the presence and the structure of ecDNAs

  Study EGAS50000000194

• Maternally-Inherited SPTBN1 Mutation

  The dataset consists of exome sequencing data from a male patient with a maternally inherited SPTBN1 mutation. The clinical presentations include autism spectrum disorder, cognitive delay, feeding difficulties, gastrointestinal manifestations, and musculoskeletal abnormalities.

  Dataset EGAD50000001726

• Whole-genome data from a high-density melanoma family

  This dataset contains whole-genome sequence data from individuals in a high-density melanoma family. Sequences were aligned againt the human reference genome HG19 using BWA.

  Dataset EGAD50000002154

• TSG_knock_out_in_hiPSCs

  We will perform RNAseq to evaluate the effects of the loss of a list of TSGs on the transcriptome.

  Study EGAS00001002262

• Characterizing the tumor immune microenvironment of ependymomas using targeted gene expression profiles and RNA-sequencing the pros and cons

  RNA sequencing data of a collection of 6 pediatric ependymoma cases

  Study EGAS00001006535

• Bulk exome sequencing of primary GBM - SF 10282

  We performed bulk exome-seq on a primary GBM and a blood sample from SF10282

  Dataset EGAD00001002275

• Bulk exome sequencing of primary GBM - SF 10345

  We performed bulk exome-seq on a primary GBM and a blood sample from SF10345

  Dataset EGAD00001002273