15041 results for "cancer studies using rna-seq"

in 249.02 milliseconds.

• Reference epigenome IPS-NPC02 h3k4me1 ChIP-Seq data generated from KEP study

  IPS-NPC02 h3k4me1 ChIP-Seq paired end data

  Dataset EGAD00001007287

• Reference epigenome Kidney-mesangial02 h3k27me3 ChIP-Seq data generated from KEP study

  Kidney-mesangial02 h3k27me3 ChIP-Seq paired end data

  Dataset EGAD00001007257

• Reference epigenome Kidney-mesangial01 h3k27me3 ChIP-Seq data generated from KEP study

  Kidney-mesangial01 h3k27me3 ChIP-Seq paired end data

  Dataset EGAD00001007250

• Reference epigenome Kidney-mesangial02 input ChIP-Seq data generated from KEP study

  Kidney-mesangial02 input ChIP-Seq paired end data

  Dataset EGAD00001007262

• Reference epigenome IPS-Fibroblast01 h3k27ac ChIP-Seq data generated from KEP study

  IPS-Fibroblast01 h3k27ac ChIP-Seq paired end data

  Dataset EGAD00001007263

• Reference epigenome IPS-NPC02 h3k27me3 ChIP-Seq data generated from KEP study

  IPS-NPC02 h3k27me3 ChIP-Seq paired end data

  Dataset EGAD00001007285

• Reference epigenome IPS-NPC02 h3k36me3 ChIP-Seq data generated from KEP study

  IPS-NPC02 h3k36me3 ChIP-Seq paired end data

  Dataset EGAD00001007286

• Reference epigenome IPS-NPC02 h3k9me3 ChIP-Seq data generated from KEP study

  IPS-NPC02 h3k9me3 ChIP-Seq paired end data

  Dataset EGAD00001007289

• Reference epigenome IPS-ENeuron02 h3k4me1 ChIP-Seq data generated from KEP study

  IPS-ENeuron02 h3k4me1 ChIP-Seq paired end data

  Dataset EGAD00001007301

• Reference epigenome Fat-adipocyte05 h3k4me1 ChIP-Seq data generated from KEP study

  Fat-adipocyte05 h3k4me1 ChIP-Seq paired end data

  Dataset EGAD00001007488

• Reference epigenome Fat-adipocyte05 h3k4me3 ChIP-Seq data generated from KEP study

  Fat-adipocyte05 h3k4me3 ChIP-Seq paired end data

  Dataset EGAD00001007489

• Reference epigenome Fat-adipocyte05 input ChIP-Seq data generated from KEP study

  Fat-adipocyte05 input ChIP-Seq paired end data

  Dataset EGAD00001007491

• Reference epigenome DB31_N_Alpha_smRNA-Seq data generated from KEP study

  A DB31_N_Alpha_smRNA-Seq single end data for alpha cells(PSA-NCAM(-), pancreas)

  Dataset EGAD00001003494

• Reference epigenome IPS-NPC01 h3k4me3 ChIP-Seq data generated from KEP study

  IPS-NPC01 h3k4me3 ChIP-Seq paired end data

  Dataset EGAD00001007281

• Reference epigenome Kidney-Podocyte01 h3k27ac ChIP-Seq data generated from KEP study

  Kidney-Podocyte01 h3k27ac ChIP-Seq paired end data

  Dataset EGAD00001007228

• Reference epigenome Fat-adipocyte03 h3k9me3 ChIP-Seq data generated from KEP study

  Fat-adipocyte03 h3k9me3 ChIP-Seq paired end data

  Dataset EGAD00001007476

• 4C-Seq datasets of EndoC-bh1

  2 Circular chromosome conformation capture (4C-Seq) datasets of the human beta cell line EndoC-bh1.

  Dataset EGAD00001005210

• Reference epigenome IPS-Fibroblast02 h3k4me1 ChIP-Seq data generated from KEP study

  IPS-Fibroblast02 h3k4me1 ChIP-Seq paired end data

  Dataset EGAD00001007273

• Reference epigenome Kidney-Podocyte04 h3k27me3 ChIP-Seq data generated from KEP study

  Kidney-Podocyte04 h3k27me3 ChIP-Seq paired end data

  Dataset EGAD00001007243

• Reference epigenome DB31_N_Alpha_mRNA-Seq data generated from KEP study

  A DB31_N_Alpha_mRNA-Seq paired end data for alpha cells(PSA-NCAM(-), pancreas)

  Dataset EGAD00001003485

• Reference epigenome Pancreas-Islet02 h3k4me3 ChIP-Seq data generated from KEP study

  Pancreas-Islet02 h3k4me3 ChIP-Seq paired end data

  Dataset EGAD00001007197

• Reference epigenome Pancreas-Islet02 h3k27me3 ChIP-Seq data generated from KEP study

  Pancreas-Islet02 h3k27me3 ChIP-Seq paired end data

  Dataset EGAD00001007194

• Reference epigenome Pancreas-Islet02 h3k4me1 ChIP-Seq data generated from KEP study

  Pancreas-Islet02 h3k4me1 ChIP-Seq paired end data

  Dataset EGAD00001007196

• Reference epigenome Pancreas-Islet03 h3k36me3 ChIP-Seq data generated from KEP study

  Pancreas-Islet03 h3k36me3 ChIP-Seq paired end data

  Dataset EGAD00001007202

• Reference epigenome Pancreas-Islet04 h3k9me3 ChIP-Seq data generated from KEP study

  Pancreas-Islet04 h3k9me3 ChIP-Seq paired end data

  Dataset EGAD00001007212

• Reference epigenome Kidney-Podocyte01 h3k36me3 ChIP-Seq data generated from KEP study

  Kidney-Podocyte01 h3k36me3 ChIP-Seq paired end data

  Dataset EGAD00001007230

• Reference epigenome Kidney-Podocyte04 h3k27ac ChIP-Seq data generated from KEP study

  Kidney-Podocyte04 h3k27ac ChIP-Seq paired end data

  Dataset EGAD00001007242

• Reference epigenome Kidney-Podocyte01 h3k9me3 ChIP-Seq data generated from KEP study

  Kidney-Podocyte01 h3k9me3 ChIP-Seq paired end data

  Dataset EGAD00001007233

• Reference epigenome Kidney-Podocyte03 input ChIP-Seq data generated from KEP study

  Kidney-Podocyte03 input ChIP-Seq paired end data

  Dataset EGAD00001007241

• Reference epigenome Kidney-Podocyte04 h3k4me1 ChIP-Seq data generated from KEP study

  Kidney-Podocyte04 h3k4me1 ChIP-Seq paired end data

  Dataset EGAD00001007245

• Reference epigenome Kidney-mesangial01 h3k27ac ChIP-Seq data generated from KEP study

  Kidney-mesangial01 h3k27ac ChIP-Seq paired end data

  Dataset EGAD00001007249

• Reference epigenome Kidney-Podocyte04 h3k4me3 ChIP-Seq data generated from KEP study

  Kidney-Podocyte04 h3k4me3 ChIP-Seq paired end data

  Dataset EGAD00001007246

• Reference epigenome Kidney-Podocyte04 h3k9me3 ChIP-Seq data generated from KEP study

  Kidney-Podocyte04 h3k9me3 ChIP-Seq paired end data

  Dataset EGAD00001007247

• Reference epigenome Kidney-mesangial01 h3k4me3 ChIP-Seq data generated from KEP study

  Kidney-mesangial01 h3k4me3 ChIP-Seq paired end data

  Dataset EGAD00001007253

• Reference epigenome Kidney-mesangial01 input ChIP-Seq data generated from KEP study

  Kidney-mesangial01 input ChIP-Seq paired end data

  Dataset EGAD00001007255

• Reference epigenome Kidney-mesangial02 h3k4me1 ChIP-Seq data generated from KEP study

  Kidney-mesangial02 h3k4me1 ChIP-Seq paired end data

  Dataset EGAD00001007259

• Reference epigenome Kidney-mesangial02 h3k4me3 ChIP-Seq data generated from KEP study

  Kidney-mesangial02 h3k4me3 ChIP-Seq paired end data

  Dataset EGAD00001007260

• Reference epigenome Kidney-mesangial02 h3k9me3 ChIP-Seq data generated from KEP study

  Kidney-mesangial02 h3k9me3 ChIP-Seq paired end data

  Dataset EGAD00001007261

• Reference epigenome IPS-NPC01 h3k27ac ChIP-Seq data generated from KEP study

  IPS-NPC01 h3k27ac ChIP-Seq paired end data

  Dataset EGAD00001007277

• Reference epigenome IPS-NPC01 h3k4me1 ChIP-Seq data generated from KEP study

  IPS-NPC01 h3k4me1 ChIP-Seq paired end data

  Dataset EGAD00001007280

• Reference epigenome IPS-NPC01 h3k9me3 ChIP-Seq data generated from KEP study

  IPS-NPC01 h3k9me3 ChIP-Seq paired end data

  Dataset EGAD00001007282

• Reference epigenome IPS-ENeuron01 h3k27ac ChIP-Seq data generated from KEP study

  IPS-ENeuron01 h3k27ac ChIP-Seq paired end data

  Dataset EGAD00001007291

• Reference epigenome IPS-ENeuron02 h3k9me3 ChIP-Seq data generated from KEP study

  IPS-ENeuron02 h3k9me3 ChIP-Seq paired end data

  Dataset EGAD00001007303

• Reference epigenome Kidney-mesangial01 h3k4me1 ChIP-Seq data generated from KEP study

  Kidney-mesangial01 h3k4me1 ChIP-Seq paired end data

  Dataset EGAD00001007252

• Reference epigenome Islet-derived-iPSC02 h3k4me3 ChIP-Seq data generated from KEP study

  Islet-derived-iPSC02 h3k4me3 ChIP-Seq paired end data

  Dataset EGAD00001007447

• ICGC MMML-seq Data Freeze July 2013 whole genome sequencing

  ICGC MMML-seq Data Freeze July 2013 whole genome sequencing

  Dataset EGAD00001000645

• ICGC MMML-seq Data Freeze July 2013 miRNA sequencing

  ICGC MMML-seq Data Freeze July 2013 miRNA sequencing

  Dataset EGAD00001000650

• Reference epigenome Islet-derived-MSC03 h3k36me3 ChIP-Seq data generated from KEP study

  Islet-derived-MSC03 h3k36me3 ChIP-Seq paired end data

  Dataset EGAD00001007424

• Reference epigenome Pancreas-Islet06 h3k4me3 ChIP-Seq data generated from KEP study

  Pancreas-Islet06 h3k4me3 ChIP-Seq paired end data

  Dataset EGAD00001007454

• Reference epigenome Pancreas-Islet06 h3k27ac ChIP-Seq data generated from KEP study

  Pancreas-Islet06 h3k27ac ChIP-Seq paired end data

  Dataset EGAD00001007450

• Reference epigenome Pancreas-Islet06 h3k27me3 ChIP-Seq data generated from KEP study

  Pancreas-Islet06 h3k27me3 ChIP-Seq paired end data

  Dataset EGAD00001007451

• Reference epigenome Pancreas-Islet06 h3k9me3 ChIP-Seq data generated from KEP study

  Pancreas-Islet06 h3k9me3 ChIP-Seq paired end data

  Dataset EGAD00001007455

• Reference epigenome Pancreas-Islet06 input ChIP-Seq data generated from KEP study

  Pancreas-Islet06 input ChIP-Seq paired end data

  Dataset EGAD00001007456

• Reference epigenome Pancreas-Islet07 h3k4me1 ChIP-Seq data generated from KEP study

  Pancreas-Islet07 h3k4me1 ChIP-Seq paired end data

  Dataset EGAD00001007460

• Reference epigenome Pancreas-Islet08 h3k27ac ChIP-Seq data generated from KEP study

  Pancreas-Islet08 h3k27ac ChIP-Seq paired end data

  Dataset EGAD00001007464

• Reference epigenome Pancreas-Islet08 h3k4me3 ChIP-Seq data generated from KEP study

  Pancreas-Islet08 h3k4me3 ChIP-Seq paired end data

  Dataset EGAD00001007468

• Reference epigenome Fat-adipocyte03 h3k4me1 ChIP-Seq data generated from KEP study

  Fat-adipocyte03 h3k4me1 ChIP-Seq paired end data

  Dataset EGAD00001007474

• Reference epigenome Fat-adipocyte03 h3k4me3 ChIP-Seq data generated from KEP study

  Fat-adipocyte03 h3k4me3 ChIP-Seq paired end data

  Dataset EGAD00001007475

• Reference epigenome Fat-adipocyte04 h3k27me3 ChIP-Seq data generated from KEP study

  Fat-adipocyte04 h3k27me3 ChIP-Seq paired end data

  Dataset EGAD00001007479

• Reference epigenome Fat-adipocyte04 h3k36me3 ChIP-Seq data generated from KEP study

  Fat-adipocyte04 h3k36me3 ChIP-Seq paired end data

  Dataset EGAD00001007480

• Reference epigenome Fat-adipocyte04 h3k4me3 ChIP-Seq data generated from KEP study

  Fat-adipocyte04 h3k4me3 ChIP-Seq paired end data

  Dataset EGAD00001007482

• Reference epigenome Fat-adipocyte05 h3k9me3 ChIP-Seq data generated from KEP study

  Fat-adipocyte05 h3k9me3 ChIP-Seq paired end data

  Dataset EGAD00001007490

• Reference epigenome Kidney-Podocyte01 h3k4me3 ChIP-Seq data generated from KEP study

  Kidney-Podocyte01 h3k4me3 ChIP-Seq paired end data

  Dataset EGAD00001007232

• Reference epigenome Kidney-Podocyte01 input ChIP-Seq data generated from KEP study

  Kidney-Podocyte01 input ChIP-Seq paired end data

  Dataset EGAD00001007234

• Reference epigenome ADMSC01_smRNA-Seq data generated from KEP study

  A ADMSC01_smRNA-Seq single end data for adipose-derived mesenchymal stroaml cells

  Dataset EGAD00001003867

• Reference epigenome Fat-adipocyte03 input ChIP-Seq data generated from KEP study

  Fat-adipocyte03 input ChIP-Seq paired end data

  Dataset EGAD00001007477

• Reference epigenome Pancreas-beta01 h3k27me3 ChIP-Seq data generated from KEP study

  Pancreas-beta01 h3k27me3 ChIP-Seq paired end data

  Dataset EGAD00001007215

• Reference epigenome Pancreas-Islet02 h3k27ac ChIP-Seq data generated from KEP study

  Pancreas-Islet02 h3k27ac ChIP-Seq paired end data

  Dataset EGAD00001007193

• Reference epigenome Pancreas-Islet03 h3k9me3 ChIP-Seq data generated from KEP study

  Pancreas-Islet03 h3k9me3 ChIP-Seq paired end data

  Dataset EGAD00001007205

• Reference epigenome Pancreas-Islet04 h3k27ac ChIP-Seq data generated from KEP study

  Pancreas-Islet04 h3k27ac ChIP-Seq paired end data

  Dataset EGAD00001007207

• Reference epigenome Pancreas-Islet04 h3k27me3 ChIP-Seq data generated from KEP study

  Pancreas-Islet04 h3k27me3 ChIP-Seq paired end data

  Dataset EGAD00001007208

• Reference epigenome Pancreas-Islet04 h3k36me3 ChIP-Seq data generated from KEP study

  Pancreas-Islet04 h3k36me3 ChIP-Seq paired end data

  Dataset EGAD00001007209

• Reference epigenome Pancreas-Islet04 input ChIP-Seq data generated from KEP study

  Pancreas-Islet04 input ChIP-Seq paired end data

  Dataset EGAD00001007213

• Reference epigenome Pancreas-beta01 h3k9me3 ChIP-Seq data generated from KEP study

  Pancreas-beta01 h3k9me3 ChIP-Seq paired end data

  Dataset EGAD00001007219

• Reference epigenome Fat-Preadipocyte01 h3k27me3 ChIP-Seq data generated from KEP study

  Fat-Preadipocyte01 h3k27me3 ChIP-Seq paired end data

  Dataset EGAD00001007222

• Reference epigenome Kidney-Podocyte03 h3k27me3 ChIP-Seq data generated from KEP study

  Kidney-Podocyte03 h3k27me3 ChIP-Seq paired end data

  Dataset EGAD00001007236

• Reference epigenome Kidney-Podocyte03 h3k4me1 ChIP-Seq data generated from KEP study

  Kidney-Podocyte03 h3k4me1 ChIP-Seq paired end data

  Dataset EGAD00001007238

• Reference epigenome Kidney-Podocyte03 h3k4me3 ChIP-Seq data generated from KEP study

  Kidney-Podocyte03 h3k4me3 ChIP-Seq paired end data

  Dataset EGAD00001007239

• Reference epigenome Kidney-Podocyte03 h3k9me3 ChIP-Seq data generated from KEP study

  Kidney-Podocyte03 h3k9me3 ChIP-Seq paired end data

  Dataset EGAD00001007240

• Reference epigenome Kidney-mesangial01 h3k9me3 ChIP-Seq data generated from KEP study

  Kidney-mesangial01 h3k9me3 ChIP-Seq paired end data

  Dataset EGAD00001007254

• Reference epigenome IPS-Fibroblast02 h3k4me3 ChIP-Seq data generated from KEP study

  IPS-Fibroblast02 h3k4me3 ChIP-Seq paired end data

  Dataset EGAD00001007274

• Reference epigenome IPS-NPC01 h3k36me3 ChIP-Seq data generated from KEP study

  IPS-NPC01 h3k36me3 ChIP-Seq paired end data

  Dataset EGAD00001007279

• Reference epigenome IPS-NPC01 h3k27me3 ChIP-Seq data generated from KEP study

  IPS-NPC01 h3k27me3 ChIP-Seq paired end data

  Dataset EGAD00001007278

• Reference epigenome Pancreas-Islet07 h3k27me3 ChIP-Seq data generated from KEP study

  Pancreas-Islet07 h3k27me3 ChIP-Seq paired end data

  Dataset EGAD00001007458

• Reference epigenome Pancreas-Islet07 h3k36me3 ChIP-Seq data generated from KEP study

  Pancreas-Islet07 h3k36me3 ChIP-Seq paired end data

  Dataset EGAD00001007459

• Reference epigenome Pancreas-Islet08 h3k27me3 ChIP-Seq data generated from KEP study

  Pancreas-Islet08 h3k27me3 ChIP-Seq paired end data

  Dataset EGAD00001007465

• Reference epigenome Pancreas-Islet08 input ChIP-Seq data generated from KEP study

  Pancreas-Islet08 input ChIP-Seq paired end data

  Dataset EGAD00001007470

• Reference epigenome Fat-adipocyte03 h3k36me3 ChIP-Seq data generated from KEP study

  Fat-adipocyte03 h3k36me3 ChIP-Seq paired end data

  Dataset EGAD00001007473

• BLUEPRINT Bisulfite-seq and Whole Genome Sequencing of mantle cell lymphoma

  BLUEPRINT Bisulfite-seq and Whole Genome Sequencing of mantle cell lymphoma

  Dataset EGAD00001001892

• Paired-end ATAC-seq analysis of the 3D spatially mapped GBM samples.

  Dataset contains 70 paired-end ATAC-seq samples from 8 patients.

  Dataset EGAD00001010311

• Reference epigenome Pancreas-Islet03 h3k4me3 ChIP-Seq data generated from KEP study

  Pancreas-Islet03 h3k4me3 ChIP-Seq paired end data

  Dataset EGAD00001007204

• Reference epigenome Fat-Preadipocyte01 h3k4me1 ChIP-Seq data generated from KEP study

  Fat-Preadipocyte01 h3k4me1 ChIP-Seq paired end data

  Dataset EGAD00001007224

• Reference epigenome Kidney-Podocyte04 h3k36me3 ChIP-Seq data generated from KEP study

  Kidney-Podocyte04 h3k36me3 ChIP-Seq paired end data

  Dataset EGAD00001007244

• Reference epigenome IPS-Fibroblast01 h3k27me3 ChIP-Seq data generated from KEP study

  IPS-Fibroblast01 h3k27me3 ChIP-Seq paired end data

  Dataset EGAD00001007264

• Reference epigenome IPS-Fibroblast01 h3k36me3 ChIP-Seq data generated from KEP study

  IPS-Fibroblast01 h3k36me3 ChIP-Seq paired end data

  Dataset EGAD00001007265

• Reference epigenome IPS-Fibroblast01 h3k4me1 ChIP-Seq data generated from KEP study

  IPS-Fibroblast01 h3k4me1 ChIP-Seq paired end data

  Dataset EGAD00001007266

• Reference epigenome IPS-Fibroblast01 h3k4me3 ChIP-Seq data generated from KEP study

  IPS-Fibroblast01 h3k4me3 ChIP-Seq paired end data

  Dataset EGAD00001007267

• Reference epigenome IPS-Fibroblast01 h3k9me3 ChIP-Seq data generated from KEP study

  IPS-Fibroblast01 h3k9me3 ChIP-Seq paired end data

  Dataset EGAD00001007268

• Reference epigenome IPS-Fibroblast01 input ChIP-Seq data generated from KEP study

  IPS-Fibroblast01 input ChIP-Seq paired end data

  Dataset EGAD00001007269

• Reference epigenome IPS-Fibroblast02 h3k27me3 ChIP-Seq data generated from KEP study

  IPS-Fibroblast02 h3k27me3 ChIP-Seq paired end data

  Dataset EGAD00001007271

• Reference epigenome IPS-Fibroblast02 h3k36me3 ChIP-Seq data generated from KEP study

  IPS-Fibroblast02 h3k36me3 ChIP-Seq paired end data

  Dataset EGAD00001007272

• Reference epigenome IPS-ENeuron01 h3k27me3 ChIP-Seq data generated from KEP study

  IPS-ENeuron01 h3k27me3 ChIP-Seq paired end data

  Dataset EGAD00001007292

• Reference epigenome IPS-ENeuron01 h3k36me3 ChIP-Seq data generated from KEP study

  IPS-ENeuron01 h3k36me3 ChIP-Seq paired end data

  Dataset EGAD00001007293

• Reference epigenome IPS-ENeuron01 h3k4me1 ChIP-Seq data generated from KEP study

  IPS-ENeuron01 h3k4me1 ChIP-Seq paired end data

  Dataset EGAD00001007294

• Reference epigenome IPS-ENeuron01 h3k4me3 ChIP-Seq data generated from KEP study

  IPS-ENeuron01 h3k4me3 ChIP-Seq paired end data

  Dataset EGAD00001007295

• Reference epigenome IPS-ENeuron01 h3k9me3 ChIP-Seq data generated from KEP study

  IPS-ENeuron01 h3k9me3 ChIP-Seq paired end data

  Dataset EGAD00001007296

• Reference epigenome IPS-ENeuron01 input ChIP-Seq data generated from KEP study

  IPS-ENeuron01 input ChIP-Seq paired end data

  Dataset EGAD00001007297

• Reference epigenome IPS-ENeuron02 h3k27me3 ChIP-Seq data generated from KEP study

  IPS-ENeuron02 h3k27me3 ChIP-Seq paired end data

  Dataset EGAD00001007299

• Reference epigenome IPS-ENeuron02 h3k36me3 ChIP-Seq data generated from KEP study

  IPS-ENeuron02 h3k36me3 ChIP-Seq paired end data

  Dataset EGAD00001007300

• Reference epigenome IPS-ENeuron02 input ChIP-Seq data generated from KEP study

  IPS-ENeuron02 input ChIP-Seq paired end data

  Dataset EGAD00001007304

• Kids First: Genomic Studies of Orofacial Cleft Birth Defects

  The Gabriella Miller Kids First Pediatric Research Program (Kids First) is a trans-NIH effort initiated in response to the 2014 Gabriella Miller Kids First Research Act and supported by the NIH Common Fund. This program focuses on gene discovery in pediatric cancers and structural birth defects and the development of the Gabriella Miller Kids First Pediatric Data Resource (Kids First Data Resource). Both childhood cancers and structural birth defects are critical and costly conditions associated with substantial morbidity and mortality. Elucidating the underlying genetic etiology of these diseases has the potential to profoundly improve preventative measures, diagnostics, and therapeutic interventions. WGS and phenotypic data from this study are accessible through dbGaP and kidsfirstdrc.org, where other Kids First datasets can also be accessed. The Kids First study of nonsyndromic orofacial cleft birth defects (OFCs) is a whole genome sequencing study of 415 White parent-case trios drawn from ongoing collaborations led by Dr. Mary L. Marazita of the University of Pittsburgh Center for Craniofacial and Dental Genetics, including collaborations with Dr. George Wehby of the University of Iowa, Dr. Jacqueline Hecht of the University of Texas, and Dr. Terri Beaty of Johns Hopkins University. Sequencing was done by the Washington University McDonell Genome Institute. The case in each of the Kids First trios has cleft lip (CL, Figure A), cleft palate (CP, Figure B), or both (CL+CP, Figure C): OFCs are genetically complex structural birth defects caused by genetic factors, environmental exposures, and their interactions. OFCs are the most common craniofacial anomalies in humans, affecting approximately 1 in 700 newborns, and are one of the most common structural birth defects worldwide. On average a child with an OFC initially faces feeding difficulties, undergoes 6 surgeries, spends 30 days in hospital, receives 5 years of orthodontic treatment, and participates in ongoing speech therapy, leading to an estimated total lifetime treatment cost of about $200,000. Further, individuals born with an OFC have higher infant mortality, higher mortality rates at all other stages of life, increased incidence of mental health problems, and higher risk for other disorders (notably including breast, brain, and colon cancers). Prior genome-wide linkage and association studies have now identified at least 18 genomic regions likely to contribute to the risk for nonsyndromic OFCs. Despite this substantial progress, the functional/pathogenic variants at OFC-associated regions are mostly still unknown. Because previous OFC genomic studies (genome-wide linkage, genome-wide association studies (GWAS), and targeted sequencing) are based on relatively sparse genotyping data, they cannot distinguish between causal variants and variants in linkage disequilibrium with unobserved causal variants. Moreover, it is unknown whether the association or linkage signals are due to single common variants, haplotypes of multiple common variants, clusters of multiple rare variants, or some combination. Finally, we cannot yet attribute specific genetic risk to individual cases and case families. Therefore, the goal of the current study is to identify specific OFC risk variants in Whites by performing whole genome sequencing of parent-case trios.

  Study phs001168

• HCA_Reproductive_Tract_Adult_RNA

  HCA Reproductive Tract Adult RNA

  Study EGAS00001006636

• A Single Cell Atlas of Gene Regulatory Elements in the Human Heart

  Background: Cis-regulatory elements such as enhancers and promoters are crucial for directing gene expression in the human heart. Dysregulation of these elements can result in many cardiovascular diseases that are major leading causes of morbidity and mortality worldwide. In addition, genetic variants associated with cardiovascular disease risk are enriched within cis-regulatory elements. However, the location and activity of these cis-regulatory elements in individual cardiac cell types remains to be fully defined. Methods: We performed single nucleus ATAC-seq and single nucleus RNA-seq to define a comprehensive catalogue of candidate cis-regulatory elements (cCREs) and gene expression patterns for the distinct cell types comprising each chamber of four non-failing human hearts. We used this catalogue to computationally deconvolute dynamic enhancers in failing hearts and to assign cardiovascular disease risk variants to cCREs in individual cardiac cell types. Finally, we applied reporter assays, genome editing, and electrophysiogical measurements in in vitro differentiated human cardiomyocytes to validate the molecular mechanisms of cardiovascular disease risk variants. Results: We defined >287,000 candidate cis-regulatory elements (cCREs) in human hearts at single-cell resolution, which notably revealed gene regulatory programs controlling specific cell types in a cardiac region/structure-dependent manner and during heart failure. We further report enrichment of cardiovascular disease risk variants in cCREs of distinct cardiac cell types, including a strong enrichment of atrial fibrillation variants in cardiomyocyte cCREs, and reveal 38 candidate causal atrial fibrillation variants localized to cardiomyocyte cCREs. Two such risk variants residing within a cardiomyocyte-specific cCRE at the KCNH2/HERG locus resulted in reduced enhancer activity compared to the non-risk allele. Finally, we found that deletion of the cCRE containing these variants decreased KCNH2 expression and prolonged action potential repolarization in an enhancer dosage-dependent manner. Conclusion: This comprehensive atlas of human cardiac cCREs provides the foundation for not only illuminating cell type-specific gene regulatory programs controlling human hearts during health and disease, but also interpreting genetic risk loci for a wide spectrum of cardiovascular diseases.

  Study phs002204

• Functional Multiomics of Cellular Therapy and Immune Checkpoint Blockade Therapy for Solid Tumors

  Tumor samples were collected from a patient with synovial sarcoma, which acquired resistance to ACT targeting NY-ESO-1. Biopsies (n=3; primary, metastasis, and recurrence) were subjected to bulk tumor DNA and RNA sequencing, as well as high-dimensional spatial profiling of RNA and protein targets. Bulk tumor whole exome and RNA sequencing corresponding to all three tumor specimens and whole exome sequencing from patient-matched normal blood are made available through this accession.

  Study phs002762

• Extracellular microRNA Biomarkers for Diagnostic and Prognostic Assessment of Preeclampsia at Triage

  This study is comprised of samples from 123 donors (71 cases and 52 controls) undergoing evaluation for preeclampsia. All samples were collected between 20 and 40 weeks of gestation. Small RNA sequencing was done on serum RNA obtained from donors. We were able to identify 3 bivariate extracellular miRNA biomarkers that can enable early diagnosis of preeclampsia. The raw fastq small-RNA sequencing fastq files will be submitted to dbGaP.

  Study phs003169

• Oesophageal adenocarcinoma RNAseq from LUD2015-005 study (NCT02735239, EudraCT 2015-005298-19)

  This dataset contains bulk transcriptomes from the inoperable cohorts of the LUD2015-005 study (NCT02735239, EudraCT 2015-005298-19). Transcriptomes were prepared from pre-treatment oesophageal tumour biopsies using a ribodepletion approach in order to assess both previously reported (e.g. PD-L1 expression) and novel predictive expression-based biomarkers for immunochemotherapy treatment in this setting. On-treatment and post-treatment biopsies were generated as well to characterize response to therapy, and samples were also prepared from paired normal GI tissues for a subset of patients. scRNA-seq based deconvolution was also applied to bulk transcriptomes in this study to estimate the cell composition of tumour biopsies and assess the link between the presence of specific cell types with immunochemotherapy outcomes.

  Dataset EGAD00001009399

• Chromatin segmentation of myometrium and UL subclasses

  Histone modification ChIP-seq for chromatin state annotations of myometrium and UL subclasses. Altogether 5 analyses and 210 runs. Includes fastq files; both ChIP and Input for each sample. Some Inputs are used for multiple ChIP experiments. ChIP-seq alignment files for trimmed, mapping q20 and nonredundant reads; both ChIP and Input for each sample. Software: Trim Galore v0.6.7; Bowtie 2 v2.5.0; samtools v1.6

  Dataset EGAD50000001443

• COVID-19 Postmortem Lung snRNA-seq

  A deeper understanding of the pathological mechanisms of SARS-CoV-2 infection is required to combat COVID-19. Through this dataset, we analyze postmortem lung cells from patients that are infected/uninfected with SARS-CoV-2 with snRNA-seq.

  Study EGAS00001004689

• Human Embryonic Multi-tissue ChIP-seq (Manchester)

  Histone ChIP-seq of 13 human embryonic tissues from weeks 6-8 of gestation. H3K4me3, H3K27me3 and H3K27ac. Biological replicates (n=2) for 11 tissues. Tissues (n): Brain (2); Retinal Pigmented Epithelium (eye)(2); Palate(2); Tongue (1); Left ventricle (heart)(2); Lung(2); Liver(2); Pancreas (2*); Stomach(1); Upper limb (2); Lower limb (2); Adrenal gland (2); Kidney (2)

  Dataset EGAD00001004335

• DNA methylation (MCIP-seq) of human acute leukemias and healthy donors

  MCIP-seq of 77 primary samples obtained from human acute leukemias, namely AML, T-ALL and mixed myeloid/lymphoid leukemias with CpG Island Methylator Phenotype (CIMP). Moreover, MCIP-seq of CD34+ HSPCs from 3 healthy donors is included.

  Dataset EGAD00001011052

• Reference epigenome Islet-derived-MSC04 h3k36me3 ChIP-Seq data generated from KEP study

  Islet-derived-MSC04 h3k36me3 ChIP-Seq paired end data

  Dataset EGAD00001007431

• Reference epigenome Islet-derived-MSC02 input ChIP-Seq data generated from KEP study

  Islet-derived-MSC02 input ChIP-Seq paired end data

  Dataset EGAD00001007415

• Reference epigenome Islet-derived-iPSC02 input ChIP-Seq data generated from KEP study

  Islet-derived-iPSC02 input ChIP-Seq paired end data

  Dataset EGAD00001007449

• Reference epigenome Islet-derived-MSC04 h3k4me3 ChIP-Seq data generated from KEP study

  Islet-derived-MSC04 h3k4me3 ChIP-Seq paired end data

  Dataset EGAD00001007433