14313 results for ""Pennsylvania+German"+ACS+study+'Socius'+open+access"

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• UK10K COHORT ALSPAC

  The UK10K project proposes a series of complementary genetic approaches to find new low-frequency/rare variants contributing to disease phenotypes. These will be based on obtaining the genome-wide sequence of 4000 samples from the TwinsUK and ALSPAC cohorts (at 6x sequence coverage), and the exome sequence (protein-coding regions and related conserved sequence) of 6000 samples selected for extreme phenotypes. Our studies will focus primarily on cardiovascular-related quantitative traits, obesity and related metabolic traits, neurodevelopmental disorders and a limited number of extreme clinical phenotypes that will provide proof-of-concept for future familial trait sequencing. We will directly analyse quantitative traits in the cohorts and the selected traits in the extreme samples, and also use imputation down to 0.1% allele frequency to extend the analyses to further sample sets with genome wide genotype data. In each case we will investigate indels and larger structural variants as well as SNPs, and use statistical methods that combine rare variants in a locus or pathway as well as single-variant approaches. The Avon Longitudinal Study of Parents and Children (ALSPAC) is a two-generation prospective study. Pregnant women living in one of three health districts in the former county of Avon with an expected delivery date between April 1991 and December 1992 were eligible to be enrolled in the study, and this formed the initial point of contact for the development of a large, family based resource. Information has been collected on the children and the mothers through retrieval of biological materials (e.g. antenatal blood samples, placentas), biological sampling (e.g. collection of cord blood, umbilical cord, milk teeth, hair, toenails, blood and urine), self-administered questionnaires, data extraction from medical notes, linkage to routine information systems and at repeat research clinics.

  Study EGAS00001000090

• ctDNA to predict risk of progression and death after trifluridin/tipiracil therapy

  Background. Late-line treatment in metastatic colorectal cancer (mCRC) can improve the prognosis. However, not every patient has a benefit and may experience severe side effects. Thus, predictive/prognostic biomarkers are urgently needed. Despite many promising results, the role of circulating tumor DNA (ctDNA) analysis in trifluridin/tipiracil (FTD/TPI) treated mCRC patients is so far still elusive. Study design. This prospective non-interventional translational biomarker phase II study enrolled 30 metastatic CRC patients treated with FTD/TPI. The primary study aim was to identify a molecular biomarker to predict overall survival (OS) benefit upon FTD/TPI treatment. Methods. mCRC patients (60% male, 40% female) with FTD/TPI therapy were included. Molecular profiling in cell-free DNA from plasma was performed prior to treatment and on average 4, 8 and 12 weeks after FTD/TPI initiation. Tumor levels were assessed as the highest variant allele frequency (hVAF) and correlated with OS. Uni- and multivariate analyses for survival were performed with clinical variables. Multivariate analyses for survival and treatment efficacy were adjusted to age, gender and ECOG performance status. Results. Compared to previous data, our disease control rate of 30% was lower with a median OS of 8.1 months and a median PFS of 3.2 months. At baseline (BL) and the first two follow-ups (FU), a hVAF cut-off of 7.5% was most discriminative (BL HR 0.39 95% CI 0.16 - 0.98 P=0.0212, FU1 HR 0.30 95% CI 0.12 -0.77 P=0.0021, FU2 HR 0.23 95% CI 0.08-0.70 P=0.0004) whereas at the last follow-up the stratification was most pronounced at a 15% cut-off. An elevated hVAF trajectory over time was associated with a higher risk of death. Conclusion. ctDNA is detectable in a high proportion of mCRC patients. Changes in ctDNA levels are associated with survival among FTD/TPI therapy and may identify patients who benefit most from treatment in these late-stage disease.

  Study EGAS00001006883

• Exome-seq data from study of juvenile myelomonocytic leukemia (JMML)

  Whole exome seqeuncing from primary human JMML samples

  Dataset EGAD00001003419

• tRCC UTSW 2024 Cohort

  This submission contains the WES and RNA-Seq raw data for the study titled 'Comparative Genomics of a Translocation Renal Cell Carcinoma Mouse Model Reveals Molecular Mechanisms of Tumorigenesis.

  Dac EGAC50000000105

• resistance mechanims to targeted therapies from DNA sequencing

  WES of tumor tissue biopsies collected at resistance to molecular targeted agents

  Study EGAS50000000486

• Whole Genome Sequencing of Insulinomas

  Whole Genome Sequencing of Insulinomas and paired blood controls from the same patients.

  Study EGAS50000000321

• Nanopore whole genome sequencing data of HG002

  Data generated from single cell, 10 cells, and bulk samples of HG002.

  Study EGAS50000000552

• Raw RNA sequencing of hepatoblastoma PDX cell line HB-303-LEF

  Raw RNA sequencing of hepatoblastoma PDX cell line HB-303-LEF

  Study EGAS50000000928

• ADARIO / Targeting ADAR1 in Immuno-Oncology

  RNA editing analyses of BRCA-isogenic cell lines and patient-derived xenografts (PDX)

  Study EGAS50000000518

• Japanese population-specific reference panels (BioBank Japan genotype data)

  Develop Japanese population-specific reference panels to improve imputation quality for GWAS

  Study JGAS000738

• Reference epigenome KNIH005 mRNA-seq data generated from KEP study

  A KNIH005 mRNA-seq paired end data for islet cells

  Dataset EGAD00001002171

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

  Islet-derived-iPSC02 mRNA-Seq paired end data

  Dataset EGAD00001007165

• Reference epigenome KNIH001 miRNA-seq data generated from KEP study

  A KNIH001 miRNA-seq single end data for islet cells

  Dataset EGAD00001002760

• Reference epigenome IPS02_N_NPC_mRNA-Seq data generated from KEP study

  A IPS02_N_NPC_mRNA-Seq paired end data for Neural progenitor cells(Nestin)

  Dataset EGAD00001003489

• Reference epigenome IPS02_N_NPC_smRNA-Seq data generated from KEP study

  A IPS02_N_NPC_smRNA-Seq single end data for Neural progenitor cells(Nestin)

  Dataset EGAD00001003502

• Reference epigenome IPS03_N_ENeuron_smRNA-Seq data generated from KEP study

  A IPS03_N_ENeuron_smRNA-Seq single end data for Early neuron cells(Tuj1)

  Dataset EGAD00001003503

• Reference epigenome KNIH001 mRNA-seq data generated from KEP study

  A KNIH001 mRNA-seq paired end data for islet cells

  Dataset EGAD00001002167

• JMS dataset

  Juntendo Muscle Study (JMS) dataset comprises 23 samples of paired-end RNA-Seq sequences in fastq format.

  Dataset EGAD00001008983

• Reference epigenome IPS05_X_NPC_mRNA-Seq data generated from KEP study

  A IPS05_X_NPC_mRNA-Seq paired end data for Neural progenitor cells(Nestin)

  Dataset EGAD00001003492

• Reference epigenome Pancreas-Islet02 h3k36me3 ChIP-Seq data generated from KEP study

  Pancreas-Islet02 h3k36me3 ChIP-Seq paired end data

  Dataset EGAD00001007195

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

  IPS-Fibroblast02 input ChIP-Seq paired end data

  Dataset EGAD00001007276

• Reference epigenome KNIH002 mRNA-seq data generated from KEP study

  A KNIH002 mRNA-seq paired end data for islet cells

  Dataset EGAD00001002168

• Reference epigenome KNIH003 mRNA-seq data generated from KEP study

  A KNIH003 mRNA-seq paired end data for islet cells

  Dataset EGAD00001002169

• Reference epigenome IPS06_X_ENeuron_mRNA-Seq data generated from KEP study

  A IPS06_X_ENeuron_mRNA-Seq paired end data for Early neuron cells(Tuj1)

  Dataset EGAD00001003493

• Reference epigenome KNIH002 miRNA-seq data generated from KEP study

  A KNIH002 miRNA-seq single end data for islet cells

  Dataset EGAD00001002761

• Reference epigenome KNIH003 miRNA-seq data generated from KEP study

  A KNIH003 miRNA-seq single end data for islet cells

  Dataset EGAD00001002762

• Reference epigenome KNIH005 miRNA-seq data generated from KEP study

  A KNIH005 miRNA-seq single end data for islet cells

  Dataset EGAD00001002764

• Reference epigenome KNIH004 miRNA-seq data generated from KEP study

  A KNIH004 miRNA-seq single end data for islet cells

  Dataset EGAD00001002763

• Reference epigenome Islet-derived-iPSC01 mRNA-Seq data generated from KEP study

  Islet-derived-iPSC01 mRNA-Seq paired end data

  Dataset EGAD00001007164

• Reference epigenome IPS03_N_ENeuron_mRNA-Seq data generated from KEP study

  A IPS03_N_ENeuron_mRNA-Seq paired end data for Early neuron cells(Tuj1)

  Dataset EGAD00001003490

• Reference epigenome Islet-derived-MSC01 mRNA-Seq data generated from KEP study

  Islet-derived-MSC01 mRNA-Seq paired end data

  Dataset EGAD00001007160

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

  Islet-derived-MSC02 mRNA-Seq paired end data

  Dataset EGAD00001007161

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

  Islet-derived-MSC03 mRNA-Seq paired end data

  Dataset EGAD00001007162

• Reference epigenome KNIH006 mRNA-seq data generated from KEP study

  A KNIH006 mRNA-seq paired end data for beta cells

  Dataset EGAD00001002172

• Reference epigenome KNIH004 mRNA-seq data generated from KEP study

  A KNIH004 mRNA-seq paired end data for islet cells

  Dataset EGAD00001002170

• Reference epigenome IPS05_X_NPC_smRNA-Seq data generated from KEP study

  A IPS05_X_NPC_smRNA-Seq single end data for Neural progenitor cells(Nestin)

  Dataset EGAD00001003505

• Reference epigenome IPS06_X_ENeuron_smRNA-Seq data generated from KEP study

  A IPS06_X_ENeuron_smRNA-Seq single end data for Early neuron cells(Tuj1)

  Dataset EGAD00001003506

• 64 RNAseq BAMs in the HF-GBM-Tumor-Neurosphere-Xenograft study

  Whole transcriptome sequencing generated from patient, neurosphere and xenograft samples

  Dataset EGAD00001002214

• Reference epigenome KNIH006 miRNA-seq data generated from KEP study

  A KNIH006 miRNA-seq single end data for beta cells

  Dataset EGAD00001002765

• 5-FU case & control samples

  This dataset contains all samples used in study 'Whole genome characterisation of 5-FU treated organoids'

  Dataset EGAD00001004959

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

  Islet-derived-MSC04 mRNA-Seq paired end data

  Dataset EGAD00001007163

• Reference epigenome IPS-Fibroblast02 h3k27ac ChIP-Seq data generated from KEP study

  IPS-Fibroblast02 h3k27ac ChIP-Seq paired end data

  Dataset EGAD00001007270

• Reference epigenome IPS-ENeuron02 h3k27ac ChIP-Seq data generated from KEP study

  IPS-ENeuron02 h3k27ac ChIP-Seq paired end data

  Dataset EGAD00001007298

• WGS data for MMML for Study EGAS00001002198

  Whole genome sequencing data for MMML (12 tumor/control pairs)

  Dataset EGAD00001003208

• Whole Genome sequencing of adult T-cell leukemia/lymphoma

  Whole Genome sequencing of a single adult T-cell leukemia/lymphoma case

  Study EGAS00001001210

• MDS_Sequential_Treatment_Validation

  Validations of variants identified by exome sequencing in sequential samples derived after treatment cycle with AZA.

  Study EGAS00001000703

• V2_Colorectal_panel_test

  Targeted gene screen of cell line tumour samples for testing the new V2 Colorectal gene panel.

  Study EGAS00001001806

• Exome sequencing of patients with structural brain malformations

  Exome sequencing of 12 DNA samples obtained from patients with structural brain malformations.

  Study EGAS00001000142

• _RNAseq___Colorectal_organoids_and_tumoroids

  Transcriptome sequencing of tumour tissue, adjacent normal tissue and derived organoids/tumoroids from colorectal cancer

  Study EGAS00001000985

• Exome_NanoSeq__Buccals_

  Exome NanoSeq in buccal swab samples obtained from patients with a wide range of clinical phenotypes.

  Study EGAS00001007316