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• A Collaborative Search for New Genes for Non-Syndromic Deafness

  We seek to identify the DNA variants underlying sensorineural hearing loss. We obtain the DNA sequence of affected individuals and their family members. DNA variants are filtered to determine their segregation in affected families.

  Study phs003701

• Single-sell RNA sequencing counts from 7 acute myeloid leukemia patients and 3 healthy donors

  This dataset contains count data (from 10X CellRanger) and metadata from 7 acute myeloid leukemia subjects treated with chemotherapy, as well as data from 3 healthy donors. Additionally, the dataset includes VDJ data for all subjects except for 31_base and the 3 healthy donors (TCRseq not performed).

  Dataset EGAD50000000525

• Whole Exome Sequences from Eivissan and Menorcan Individuals

  30 and 21 whole exome sequences for Eivissan and Menorcan healthy unrelated volunteers, respectively. The exomes were captured with the Agilent SureSelect Human All Exon V6 capture kit and pair-end sequenced in Illumina platforms. For each individual, a pair of ".fastq" files can be found containing the raw reads.

  Dataset EGAD50000000620

• Sensitive urothelial cancer detection via high volume urine DNA analysis

  We developed a high volume (100 mL) urine DNA collection kit and laboratory platform (UroScout) analyzing 25 commonly mutated UC genes and 8 copy number-altered loci for urine tumor DNA (utDNA) alterations. To assess accuracy of UC detection, we analyzed 498 urine samples from diagnostic and surveillance timepoints from 193 UC patients and 88 cancer-negative patients evaluated for UC.

  Dataset EGAD50000000891

• EDi019-A / SAMEA4774918 WGS data

  The iPSC line EDi019-A / SAMEA4774918 has undergone whole genome sequencing. Whole genome sequencing was done using Illumina HiSeq X Five platform with a reference genome of GRCh38. Raw data as FASTQ files and analysed data as CRAM files are available for this sample, in this dataset. The iPSC line EDi019-A is available for research use at www.EBiSC.org.

  Dataset EGAD50000001029

• RCi009-A / SAMEA4339688 WGS data

  The iPSC line RCi009-A / SAMEA4339688 has undergone whole genome sequencing. Whole genome sequencing was done using Illumina HiSeq X Five platform with a reference genome of GRCh38. Raw data as FASTQ files and analysed data as CRAM files are available for this sample, in this dataset. The iPSC line RCi009-A is available for research use at www.EBiSC.org.

  Dataset EGAD50000001030

• EDi018-A / SAMEA4771918 WGS data

  The iPSC line EDi018-A / SAMEA4771918 has undergone whole genome sequencing. Whole genome sequencing was done using Illumina HiSeq X Five platform with a reference genome of GRCh38. Raw data as FASTQ files and analysed data as CRAM files are available for this sample, in this dataset. The iPSC line EDi018-A is available for research use at www.EBiSC.org.

  Dataset EGAD50000001027

• EDi016-A / SAMEA4562366 WGS data

  The iPSC line EDi016-A / SAMEA4562366 has undergone whole genome sequencing. Whole genome sequencing was done using Illumina HiSeq X Five platform with a reference genome of GRCh38. Raw data as FASTQ files and analysed data as CRAM files are available for this sample, in this dataset. The iPSC line EDi016-A is available for research use at www.EBiSC.org.

  Dataset EGAD50000001032

• EDi017-A / SAMEA4768918 WGS data

  The iPSC line EDi017-A / SAMEA4768918 has undergone whole genome sequencing. Whole genome sequencing was done using Illumina HiSeq X Five platform with a reference genome of GRCh38. Raw data as FASTQ files and analysed data as CRAM files are available for this sample, in this dataset. The iPSC line EDi017-A is available for research use at www.EBiSC.org.

  Dataset EGAD50000001033

• EDi019-C / SAMEA4777168 WGS data

  The iPSC line EDi019-C / SAMEA4777168 has undergone whole genome sequencing. Whole genome sequencing was done using Illumina HiSeq X Five platform with a reference genome of GRCh38. Raw data as FASTQ files and analysed data as CRAM files are available for this sample, in this dataset. The iPSC line EDi019-C is available for research use at www.EBiSC.org.

  Dataset EGAD50000001036