15028 results for "cancer studies using rna-seq"

in 14.92 milliseconds.

• Elucidating the heterogeneity of immunotherapy response and immune-related toxicities by longitudinal ctDNA and immune cell compartment tracking in lung cancer

  Study EGAS00001007291

• Liquid Biopsy High Grade Serous Ovarian Cancer WGS

  Liquid Biopsy High Grade Serous Ovarian Cancer WGS.

  Dataset EGAD50000001520

• WGS

  Whole-genome sequencing of pancreatic cancer organoids and matched germline controls.

  Study EGAS00001007211

• AACR Project Genomics, Evidence, Neoplasia, Information, Exchange (GENIE)

  AACR Project Genomics Evidence Neoplasia Information Exchange (GENIE) is an international pancancer registry of real-world data assembled through data sharing between 19 leading international cancer centers with the goal of improving clinical decision-making. The registry leverages ongoing clinical sequencing efforts (CLIA/ISO-certified) at participating cancer centers by pooling their data to create a novel, open-access registry to serve as an evidence base for the entire cancer community. Genomic and baseline clinical data from more than 70,000 tumors is accessible through the efforts of our strategic and technical partners, Sage Bionetworks and cBioPortal. The consortium and its activities are driven by openness, transparency, and inclusion to ensure that the project output remains accessible to the global cancer research community and ultimately benefits patients.

  Study phs001337

• Exome sequencing and disease analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis

  The study involves a single consanguineous Palestinian family with Hereditary Spastic Paraparesis (HSP). The affected individuals suffer from spasticity of the lower limbs and abnormal gait. Using exome sequencing and homozygosity mapping, our analysis implicated the causative mutation in the motor domain of KIF1A, a gene that functions in anterograde axonal transportation.

  Study phs000359

• Exome Sequencing of Chordoma Cases

  Chordoma is a rare tumor that is believed to develop from notochord remnants. We previously identified germline duplication of the TBXT gene as a major susceptibility mechanism in several chordoma families. Currently, we are using whole exome sequencing to identify additional susceptibility genes in chordoma families without TBXT duplication as well as in sporadic cases.

  Study phs001280

• Drop-BS: High-Throughput Single-Cell Bisulfite Sequencing on a Microfluidic Droplet Platform

  We present a high-throughput droplet-based bisulfite sequencing library preparation platform. Our protocol allows the production of a BS library of 2,000-10,000 single cells within 2 days. In addition to validation using mixed cell lines, we also used the technology to profile various cell types in mouse and human brain samples.

  Study phs002123

• Genetic Etiology of Hypoplastic Left Heart Syndrome

  To understand the genetic etiology of hypoplastic left heart syndrome (HLHS), patients with HLHS were consented and recruited, with blood drawn for DNA extraction and exome sequencing. Using the exome sequencing dataset obtained, rare coding sequence variants were recovered and enrichment analysis was carried out to identify genes and pathways that are likely to contribute to HLHS.

  Study phs001256

• Enhanced resolution profiling in twins reveals differential methylation signatures of Type 2 Diabetes with links to its complications

  We profiled DNA methylation in blood samples from participants of European ancestry from 7 twin cohorts using a methylation sequencing platform targeting regulatory genomic regions encompassing 2,048,698 CpG sites. The results help to improve our understanding of T2D disease pathogenesis and progression and may provide biomarkers for its complications.

  Study EGAS50000000197

• Variables of diversity, clonality, V and J usage and main COVID-19-reactive GLIPH2 frequencies.

  Main results of the T cell repertorie analysis of a cohort of 61 patients. For each patient, repertorie diversity and clonality metrics, V an J alelle frequency and COVID-19-reactive sequencies have been calculated using open.source code. For more information about the study, please visit DOI: 10.1186/s40246-024-00654-0

  Study EGAS50000000587