Project description:Illumina 1M Omni Quad arrays were used to test mutation calling accuracy of qSNP tool (a mutation caller) Ilumina array genotypes with GenCal (GC score)>0.70 were used in the comparison of genotype calls using next generation sequencing data and qSNP (mutation caller)
Project description:Analysis of gene expression profiles from sporadic and hereditary primary melanomas. The hypothesis was to test whether any gene expression differences exist between melanomas from CDKN2A mutation carriers and sporadic melanomas.
Project description:In Hawaii, a rapidly-evolving mutation in the field cricket Teleogryllus oceanicus silences males by interfering with the development of sound-producing structures on their forewings. The mutation is called flatwing (fw), and it persists because of natural selection imposed by an acoustically-orienting parasitoid. We examined gene expression differences between wild-type and mutant crickets, focusing on juvenile wing buds. We profiled mRNA expression levels using RNA-seq, and characterized the wing bud proteome using quantitative mass spectrometry. Accessing protein expression profiles under the same experimental conditions enabled us to test correspondence between the two ‘omic levels.
Project description:Background
Cancer is one of the leading causes for the morbidity and mortality worldwide. Although substantial studies have been conducted theoretically and experimentally in recent years, it is still a challenge to explore the mechanisms of cancer initiation and progression. The investigation for these problems is very important for the diagnosis of cancer diseases and development of treatment schemes.
Results
To accurately describe the process of cancer initiation, we propose a new concept of gene initial mutation rate based on our recently designed mathematical model using the non-constant mutation rate. Unlike the widely-used average gene mutation rate that depends on the number of mutations, the gene initial mutation rate can be used to describe the initiation process of a single patient. In addition, we propose the instantaneous tumour doubling time that is a continuous function of time based on the non-constant mutation rate. Our proposed concepts are supported by the clinic data of seven patients with advanced pancreatic cancer. The regression results suggest that, compared with the average mutation rate, the estimated initial mutation rate has a larger value of correlation coefficient with the patient survival time. We also provide the estimated tumour size of these seven patients over time.
Conclusions
The proposed concepts can be used to describe the cancer initiation and progression for different patients more accurately. Since a quantitative understanding of cancer progression is important for clinical treatment, our proposed model and calculated results may provide insights into the development of treatment schemes and also have other clinic implications.