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NYU Dataset
Genetic Sequencing Data Characterized Genetic Etiology of Craniofacial Microsomia
- Authors
- Andrew T. TimberlakeCasey GriffinCarrie L. HeikeAnne V. Hing25 more author(s)...
- Description
This dataset was collected to study the genetic cause of craniofacial microsomia (CFM), which is the second most common congenital facial anomaly. In this study, they performed whole-exome or genome sequencing of 146 kindreds with sporadic (n = 138) or familial (n = 8) CFM. This is identified as a highly significant burden of loss of function variants in SF3B2, which is the most prevalent genetic cause...
- Subject
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Genomics
- Access Rights
- Free to All
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NYU Dataset
Whole Exome Sequencing Confirmed Progression of Smoldering Multiple Myeloma to Multiple Myeloma
- Authors
- Eileen M. BoyleShayu DeshpandeRuslana TytarenkoCody Ashby19 more author(s)...
- Description
Smoldering multiple myeloma (SMM) is an asymptomatic plasma cell disorder. It is associated with a high-risk of progression to multiple myeloma (MM). For this study, they performed targeted sequencing on 82 patients. The results showed fewer NRAS and FAM46C mutations with SMM, which is consistent with their role as drivers of the transition to MM. They also analyzed the change in clonal structure over...
- Subject
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CancerGenomics
- Access Rights
- Free to AllAuthor Approval Required
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Myeloma XI Trial: Newly Diagnosed Patients with Multiple Myeloma with Whole Exome Sequencing of Tumour and Peripheral Blood DNA
- Authors
- Graham Jackson
- Description
Randomised Comparisons, in Myeloma Patients of All Ages, of Thalidomide, Lenalidomide, Carfilzomib and Bortezomib Induction Combinations, and of Lenalidomide and Combination Lenalidomide Vorinostat as Maintenance (Myeloma XI) was a randomized controlled trial which recruited 4420 patients in the United Kingdom who were newly diagnosed with symptomatic or non-secretory multiple myeloma to study the...
- Subject
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CancerGenomics
- Access Rights
- Author Approval Required
- Local Expert
- Gareth J. Morgan
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Relating Clinical Outcomes in Multiple Myeloma to Personal Assessment of Genetic Profile Trial
- Alternate Title(s)
- CoMMpass
- Description
The Relating Clinical Outcomes in MM to Personal Assessment of Genetic Profile (CoMMpass) trial is a longitudinal observational study sponsored by the Multiple Myeloma Research Foundation (MMRF) which follows adult patients with newly diagnosed and symptomatic myeloma over a 10 year period. The study began in 2011 and has enrolled 1154 participants across the United States, Canada, and Spain. Study...
- Subject
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CancerGenomics
- Access Rights
- Free to AllApplication Required
- Local Expert
- Gareth J. Morgan
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Myeloma XI: Paired Presentation, Relapse and Control Samples From Newly Diagnosed, Uniformly Treated Myeloma Patients
- Authors
- Graham Jackson
- Description
Randomised Comparisons, in Myeloma Patients of All Ages, of Thalidomide, Lenalidomide, Carfilzomib and Bortezomib Induction Combinations, and of Lenalidomide and Combination Lenalidomide Vorinostat as Maintenance (Myeloma XI) was a randomized controlled trial which recruited 4420 adult patients in the United Kingdom who were newly diagnosed with symptomatic or non-secretory multiple myeloma to study...
- Subject
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CancerGenomicsRisk Factors
- Access Rights
- Application RequiredAuthor Approval Required
- Local Expert
- Gareth J. Morgan
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Multiple Myeloma Genomic Study
- Alternate Title(s)
- MMGS
- Authors
- Irene M. Ghobrial
- Description
Sequencing data was collected from adult patients with a diagnosis of myeloma, monoclonal gammopathy of undetermined significance (MGUS), or smoldering myeloma in order to define the genomic characteristics of tumor cells and the tumor microenvironment (including immune cells and peripheral blood) associated with the progression of multiple myeloma. The sequencing data released to dbGaP in 2019...
- Subject
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CancerGenomics
- Access Rights
- Free to AllApplication Required
- Local Expert
- Gareth J. Morgan
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NYU Dataset
Therapeutic Insights into Overcoming Therapy Resistance in BRAFV600E Melanoma
- Authors
- Ze-Yan ZhangYingwen DingRavesanker EzhilarasanTenzin Lhakhang9 more author(s)...
- Description
Although targeted cancer therapies have been successful, their efficacies are limited by the development of resistance driven by clonal evolution within tumors. This study developed a single-cell barcoding approach to comprehensively trace clonal dynamics and capture live lineage-coupled resistant cells for in-depth multi-omics analysis and functional exploration. They showed that heterogeneous clones,...
- Subject
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CancerGenomics
- Access Rights
- Free to All