15130 results for "cancer studies using rna-seq"

in 18.31 milliseconds.

• Impact of Chemotherapy on the Somatic Mutation Burden of Sperm and Other Tissues

  We applied high-fidelity duplex sequencing to 94 samples from 36 individuals exposed to diverse chemotherapies along with 32 controls. We found that in many of the sperm samples from men exposed to chemotherapy, the somatic mutation burden was elevated compared to controls as well as the expected burden based on trio studies. We then validated this finding using other tissues, and also found increased somatic mutation burden in the blood and liver of many subjects exposed to chemotherapy compared to unexposed controls.

  Study phs003476

• Genetic sequencing of MODY patients.

  Maturity-onset Diabetes of the young (MODY) is an early-onset, autosomal dominant form of non-insulin dependent diabetes. Genetic diagnosis of MODY can transform patient management. Earlier data on the genetic predisposition to MODY have come primarily from familial studies in populations of European origin. Using next generation sequencing, we carried out a comprehensive genomic analysis of 289 individuals from India that included 152 clinically diagnosed MODY cases to identify variants in known MODY genes. Our findings report that HNF1A and ABCC8 are among the most frequently mutated MODY genes in south India.

  Study EGAS00001001699

• Collaborative Study of Genes, Nutrients and Metabolites (CSGNM)

  While many genetic and metabolic studies focus on understanding disease states, this genome wide association study (GWAS) was designed to understand the influence of genetic variants on circulating metabolites and factors in normal, healthy individuals. Over 2500 healthy, ethnically Irish college students attending Trinity College Dublin completed a health and diet questionnaire and provided a non-fasting blood sample to be used for genetic and metabolic analysis. The questionnaire was designed to collect information on age, sex, height, weight, medical conditions, smoking, dietary habits, and consumption of alcohol, fortified foods, and supplements. Extracted DNA was genotyped using the Illumina HumanOmni1-Quad Beadchip. Metabolites were measured using a number of methods and focused on those relevant to the folate/vitamin B12 pathway.

  Study phs000789

• WGS and RNA-Seq data from a GBM patient PT-HO0394

  WGS and RNA-Seq data from a GBM patient PT-HO0394

  Dataset EGAD00001004243

• WGS and RNA-Seq data from a GBM patient PT-CA2271

  WGS and RNA-Seq data from a GBM patient PT-CA2271

  Dataset EGAD00001004230

• WGS and RNA-Seq data from a GBM patient PT-TM5196

  WGS and RNA-Seq data from a GBM patient PT-TM5196

  Dataset EGAD00001004262

• WGS and RNA-Seq data from a GBM patient PT-VO7089

  WGS and RNA-Seq data from a GBM patient PT-VO7089

  Dataset EGAD00001004263

• WGS and RNA-Seq data from a GBM patient PT-MD9088

  WGS and RNA-Seq data from a GBM patient PT-MD9088

  Dataset EGAD00001004254

• WGS and RNA-Seq data from a GBM patient PT-JE6375

  WGS and RNA-Seq data from a GBM patient PT-JE6375

  Dataset EGAD00001004246

• WGS and RNA-Seq data from a GBM patient PT-GC1519

  WGS and RNA-Seq data from a GBM patient PT-GC1519

  Dataset EGAD00001004239