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• Whole Exome Sequencing of a Chinese Cataract Girl

  Whole exome sequencing of a Chinese girl with congenital cataract. The dataset contains one sample with two fastq files. The novel PAX6 mutation (c.221G>A) is associated with congenital cataract, and the WFS1 mutation (c.2070_2079del) interactively aggravates this process.

  Dataset EGAD00001008267

• Characterization of iPSC derived macrophages - cardiovascular pilot (2017-05-24)

  This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/ This dataset contains all the data available for this study on 2017-05-24.

  Dataset EGAD00001003347

• Whole Exome (WE) sequencing data files for H_NO-JB001

  DNA was derived from the primary tumour, lung metastasis, and peri-aortic lymph node metastasis. DNA from the spleen was used as a normal control.For WE sequencing we user Hybrid capture (Nimblegen version 3.0) of the lymph node and lung metastases, primary tumour and spleen normal; we generated ~100-fold coverage.

  Dataset EGAD00001001252

• Paired RNA-Seq of four patients with advanced Parathyroid carcinoma (PC)

  Paired RNA-Seq of four patients with advanced Parathyroid carcinoma (PC). The library was prepared using the Illumina TruSeq stranded mRNA Kit, the sequencing was done either on an Illumina HiSeq 4000 or on Illumina NovaSeq 6000.

  Dataset EGAD00001009730

• Whole-genome sequencing of Himalayan populations

  Whole-genome sequencing of 60 individuals from 15 Himalayan populations using the Illumina-B HiSeq X platform. These data are part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/.

  Dataset EGAD00001011358

• SAIF Alignment File

  This is the bam file generated after alignment using BWA program for the SAIF genome

  Dataset EGAD00001000249

• Whole Exome Sequencing of Bipolar cases and matched controls performed at the Broad Institute on a cohort from the Netherlands (posthuma)

  Study EGAS00001005857

• Transcriptome of insulinomas

  Characterization of the transcriptome of insulinomas by RNA-seq.

  Study EGAS50000000320

• Whole Exome Sequencing of Bipolar cases and matched controls performed at the Broad Institute on a cohort from the Netherlands (Ophoff)

  Study EGAS00001005853

• CeDNN Data Access Committee UMCG

  Celiac Disease Northern Netherlands cohort, set up by the Genetics department of the University Medical Center Groningen (UMCG).

  Dac EGAC50000000584