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• 10x Single Cell Gene Expression Library SCRNA10X_SA_CHIP0162_002

  10x Single Cell Gene Expression library SCRNA10X_SA_CHIP0162_002 for Triple negative breast cancer sample SA1035X7XB03502

  Dataset EGAD00001011246

• 10x Single Cell Gene Expression Library SCRNA10X_SA_CHIP0162_001

  10x Single Cell Gene Expression library SCRNA10X_SA_CHIP0162_001 for Triple negative breast cancer sample SA1035X8XB03420

  Dataset EGAD00001011248

• 10x Single Cell Gene Expression Library SCRNA10X_SA_CHIP0164_002

  10x Single Cell Gene Expression library SCRNA10X_SA_CHIP0164_002 for Triple negative breast cancer sample SA530X3XB03295

  Dataset EGAD00001011250

• Sequencing data for oesophageal and related samples - Black et al (WGS)

  Data supporting: "Understanding the malignant potential of gastric metaplasia of the oesophagus and its relevance to Barrett’s Oesophagus surveillance: individual-level data analysis" Black et al (WGS BOs/normals)

  Dataset EGAD00001011255

• scRNA-seq, WES, and bulk RNA-seq on longitudinal samples from 7 Lymphoma patients treated with CD20xCD3 bispecific antibodies

  We performed scRNA-seq on 15 fresh lymph node core biopsies from 7 Lymphoma patients treated with CD20xCD3 bispecific antibodies. We also performed whole-exome sequencing (WES) and bulk RNA-seq on formalin-fixed paraffin embedded (FFPE) tumor samples from these patients. WES was additionally performed on matched germline samples (blood) for each patient.

  Dataset EGAD00001011350

• WES raw data set for the study "Genomic profiling of localized (lFL) and systemic follicular lymphoma (sFL) reveals novel insights into FL pathogenesis"

  221 patient samples including 164 initial tumor (TI) samples (53/164 fresh frozen TI samples, and 111/164 formalin-fixed paraffin-embedded (FFPE) TI samples), 22 paired matched normal samples, and 35 unpaired normal samples from healthy donors; FASTQ file format, Agilent SureSelect Human All Exon V6 Kit (Agilent Technologies, Inc., Santa Clara, California, USA)

  Dataset EGAD00001011369

• RNA-sequencing and targeted DNA-sequecing of human thyroid tumors and normal samples

  RNA-sequencing data: 5 normal thyroid tissues, 14 papillary thyroid carcinomas, 2 lymph node metastases, 19 poorly differentiated thyroid carcinomas and 17 anaplastic thyroid carcinomas; Targeted DNA-sequencing of the 165 genes included in the “Solid and Haematological tumors” panel (BRIGHTCore, Brussels, Belgium): 2 normal thyroid tissues, 2 poorly differentiated thyroid carcinomas and 7 anaplastic thyroid carcinomas; 2 FASTQ files for each sample (paired).

  Dataset EGAD00001011678

• AHA Uganda Study RNAseq Dataset

  This dataset was generated as part of the AHA Uganda Study, an Acute Rheumatic Fever case-control prospective study conducted in Uganda. This dataset consists of raw fastqs from RNA sequencing for 266 samples (226 cases, 40 controls) from 162 individuals over five timepoints. RNA was extracted from Paxgene blood samples using the Sureselect HS2 library preparation kit. Sequencing was performed on Illumina NovaSeq 6000, yielding ~30-40 million raw paired reads per sample.

  Dataset EGAD00001015810

• Phase I Clinical Trial Describing the Pharmacogenomics of Aspirin

  The study protocol for both cohorts has been previously described (Journal of Thrombosis and Thrombolysis 2012:1-12). HV1 cohort: Briefly 50 healthy volunteers were exposed to two weeks of 325mg/day aspirin after which whole blood RNA was collected in PAXgene tubes and profiled by microarray before and after aspirin exposure. The pre-aspirin samples were profiled on the U133A 2.0 array and the post-aspirin samples were profiled on the U1333plus 2.0 array. HV2 cohort: Briefly 53 healthy volunteers were exposed to four weeks of 325mg/day aspirin after which whole blood RNA was collected in PAXgene tubes and profiled by U133plus 2.0 array before and after aspirin exposure.

  Study phs000548

• Genomic Analysis of Diffuse Large B Cell Lymphoma

  Tumors from 383 newly diagnosed diffuse large B cell lymphoma were included in this study. Tumor DNA was extracted from formalin-fixed, paraffin embedded (FFPE) tissue sections, germline DNA was extracted from blood, and whole exome sequencing (WES) of all samples (n=340 tumor normal pairs) was performed using the Agilent SureSelect XT AllExon v5 + UTR kit and sequencing was carried out on an Illumina NovaSeq, 100 x 2 paired end reads. Tumor RNA (n=321) was extracted from formalin-fixed, paraffin embedded (FFPE) tissue sections and RNA sequencing was performed using the Illumina TruSeq RNA Exome Kit (Illumina) for library preparation, sequencing platform HiSeq 4000, 100 x 2 paired end reads.

  Study phs003634

• Whole Exome and RNA Sequencing of 22 Patient-Derived Xenografts from Estrogen Receptor-Positive Breast Cancers

  We performed RNA and whole exome sequencing on 22 patient-derived xenografts (PDX) from estrogen receptor-positive (ER+) breast cancers, in the presence and absence of estradiol (E2) supplementation. Exome coverage across more than 3,500 clinically relevant genes that previously were covered below 20X (~2.72Mb) was achieved. On average, 11.2Gb of unique sequence data were generated with 95.3% of the bases in the exome design covered to 20x read depth or greater. RNA sequencing was generated from xenograft tumors. Between 50 and 85M total reads were performed. The average strand-specificity and rRNA rate was 98% and 1.5%, respectively. Transcripts for 17,000 to 27,087 genes were detected in these samples.

  Study phs003324

• Lessons learned from the exome sequencing of nine cases of infertility and the way forward

  This study investigated the role of exome sequencing in the diagnosis of male and female infertility. Nine unrelated cases referred between 2019 and 2024 were analysed using exome sequencing, with segregation confirmed by Sanger sequencing and functional assays for splicing variants. We identified nine causative variants in genes including TUBB8, PATL2, CCDC39, STAG3, KIAA0319, FBXO43, AGBL5/BBS7, PLCZ1, and HS6ST1, six of which were novel. The findings highlight diverse reproductive phenotypes such as oocyte maturation arrest, early embryonic arrest, spermatogenic failure, and syndromic infertility. This work demonstrates the value of combining genetic, functional, and clinical approaches to improve diagnostic yield and patient care in reproductive failure.

  Study EGAS50000001320

• A73044B

  Whole genome sequencing for single cells for library A73044B 2085 cells; filetype=bam

  Dataset EGAD00001007101

• A73047D

  Whole genome sequencing for single cells for library A73047D 2091 cells; filetype=bam

  Dataset EGAD00001007102

• A95633B

  Whole genome sequencing for single cells for library A95633B 2259 cells; filetype=bam

  Dataset EGAD00001007104

• A96193B

  Whole genome sequencing for single cells for library A96193B 2410 cells; filetype=bam

  Dataset EGAD00001007118

• A96240B

  Whole genome sequencing for single cells for library A96240B 1683 cells; filetype=bam

  Dataset EGAD00001007122

• A95623A

  Whole genome sequencing for single cells for library A95623A 1897 cells; filetype=bam

  Dataset EGAD00001007607

• A95668B

  Whole genome sequencing for single cells for library A95668B 1905 cells; filetype=bam

  Dataset EGAD00001007609

• A95720A

  Whole genome sequencing for single cells for library A95720A 1467 cells; filetype=bam

  Dataset EGAD00001007613

• A96190A

  Whole genome sequencing for single cells for library A96190A 1833 cells; filetype=bam

  Dataset EGAD00001007620

• A96233B

  Whole genome sequencing for single cells for library A96233B 1601 cells; filetype=bam

  Dataset EGAD00001007623

• A95724B

  Whole genome sequencing for single cells for library A95724B 581 samples; filetype=bam

  Dataset EGAD00001008230

• A96172A

  Whole genome sequencing for single cells for library A96172A 1476 samples; filetype=bam

  Dataset EGAD00001008240

• A95724A

  Whole genome sequencing for single cells for library A95724A 503 samples; filetype=bam

  Dataset EGAD00001008229

• A96146A

  Whole genome sequencing for single cells for library A96146A 1195 samples; filetype=bam

  Dataset EGAD00001008233

• A96149B

  Whole genome sequencing for single cells for library A96149B 1792 samples; filetype=bam

  Dataset EGAD00001008235

• A96162B

  Whole genome sequencing for single cells for library A96162B 1316 samples; filetype=bam

  Dataset EGAD00001008238

• A96172B

  Whole genome sequencing for single cells for library A96172B 1694 samples; filetype=bam

  Dataset EGAD00001008241

• A96175C

  Whole genome sequencing for single cells for library A96175C 1473 samples; filetype=bam

  Dataset EGAD00001008243

• A96179B

  Whole genome sequencing for single cells for library A96179B 1396 samples; filetype=bam

  Dataset EGAD00001008245

• A96180B

  Whole genome sequencing for single cells for library A96180B 1189 samples; filetype=bam

  Dataset EGAD00001008246

• A96183C

  Whole genome sequencing for single cells for library A96183C 1036 samples; filetype=bam

  Dataset EGAD00001008247

• A96184A

  Whole genome sequencing for single cells for library A96184A 1733 samples; filetype=bam

  Dataset EGAD00001008248

• A96186A

  Whole genome sequencing for single cells for library A96186A 850 samples; filetype=bam

  Dataset EGAD00001008249

• A96186C

  Whole genome sequencing for single cells for library A96186C 525 samples; filetype=bam

  Dataset EGAD00001008250

• A96199B

  Whole genome sequencing for single cells for library A96199B 1170 samples; filetype=bam

  Dataset EGAD00001008251

• A96201A

  Whole genome sequencing for single cells for library A96201A 536 samples; filetype=bam

  Dataset EGAD00001008252

• A96205A

  Whole genome sequencing for single cells for library A96205A 1907 samples; filetype=bam

  Dataset EGAD00001008253

• A96210C

  Whole genome sequencing for single cells for library A96210C 1191 samples; filetype=bam

  Dataset EGAD00001008254

• A96211C

  Whole genome sequencing for single cells for library A96211C 1397 samples; filetype=bam

  Dataset EGAD00001008255

• A96215A

  Whole genome sequencing for single cells for library A96215A 1312 samples; filetype=bam

  Dataset EGAD00001008256

• A96216A

  Whole genome sequencing for single cells for library A96216A 1001 samples; filetype=bam

  Dataset EGAD00001008257

• A96220B

  Whole genome sequencing for single cells for library A96220B 1267 samples; filetype=bam

  Dataset EGAD00001008258

• A96244A

  Whole genome sequencing for single cells for library A96244A 1374 samples; filetype=bam

  Dataset EGAD00001008259

• A98176A

  Whole genome sequencing for single cells for library A98176A 1003 samples; filetype=bam

  Dataset EGAD00001008260

• A98176B

  Whole genome sequencing for single cells for library A98176B 1389 samples; filetype=bam

  Dataset EGAD00001008261

• A98284A

  Whole genome sequencing for single cells for library A98284A 1265 samples; filetype=bam

  Dataset EGAD00001008262

• A98284B

  Whole genome sequencing for single cells for library A98284B 1582 samples; filetype=bam

  Dataset EGAD00001008263

• A98289B

  Whole genome sequencing for single cells for library A98289B 1032 samples; filetype=bam

  Dataset EGAD00001008264