There have been a great many recent studies investigating the extent of Copy Number Variation in the genomes of various species such as human, cattle, dogs and many others. The results from these studies indicate that...There have been a great many recent studies investigating the extent of Copy Number Variation in the genomes of various species such as human, cattle, dogs and many others. The results from these studies indicate that the extent of the Copy Number Variation in the genome is considerable, and that in humans and in cattle, frequencies of different Copy Number Variants may differ in different breeds/ethnicities. This is not entirely unexpected as allele frequencies of certain loci vary with different breeds/ ethnicities/species and many known Copy Number Variants behave similarly to ordinary markers as regards Mendelian segregation. It is also well known in many instances, species/breeds/ethnicities show variation not only in marker allele frequencies, but also in the extent of Linkage Disequilibrium between markers. Thus it is worth investigating the extent of association between Copy Number Variants in different populations. In this paper we will investigate the extent of correlations between selected Copy Number Variants in different human populations and show that statistically significant correlations exist and are strongly population dependent.展开更多
Human microbiome studies have exploded in number in recent years with the advent of high-throughput sequencing methods.The dramatic increase in sensitivity facilitated by deep-sequencing capability has led to hundreds...Human microbiome studies have exploded in number in recent years with the advent of high-throughput sequencing methods.The dramatic increase in sensitivity facilitated by deep-sequencing capability has led to hundreds of studies characterizing microbial communities in multiple human tissues,as well as the relationships between the composition of these communities and disease.展开更多
Mutations in the human mitochondrial genome have been observed in all types of human cancer,indicating that mutations might contribute to tumorigenesis,metastasis,recurrence,or drug response.This possibility is appeal...Mutations in the human mitochondrial genome have been observed in all types of human cancer,indicating that mutations might contribute to tumorigenesis,metastasis,recurrence,or drug response.This possibility is appealing because of the known shift from oxidative metabolism to glycolysis,known as the Warburg effect,that occurs in malignancy.Mitochondrial DNA(mtDNA)mutations could either bematernally inherited and predispose to cancer(germ line mutations)or occur sporadically in the mtDNA of specific tissues(rissue-or tumor-specific somatic mutations)and contribute to the tumor initiation and progression process.High-throughput sequencing technologies now enable comprehensive detection of mtDNA variation in tissues and bodily fluids,with the potential to be used as an early detectiontool that may impact the treatment of cancer.Here,we discuss insights into the roles of mtDNA mutations in carcinogenesis,highlighting the complexities involved in the analysis and interpretation of mitochondrial genomic content.technical challenges in studying their contribution to pathogenesis,and the value of mtDNA mutations in developing early detection,diagnosis,prognosis,and therapeuticstrategics for cancer.展开更多
基金supported during the course of this investigation by the United States Department of Agriculture,National Research Iniative Grant USDA NRI-2009-03924the program Professor Visitante do Exterior of Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior(CAPES),Brasil.
文摘There have been a great many recent studies investigating the extent of Copy Number Variation in the genomes of various species such as human, cattle, dogs and many others. The results from these studies indicate that the extent of the Copy Number Variation in the genome is considerable, and that in humans and in cattle, frequencies of different Copy Number Variants may differ in different breeds/ethnicities. This is not entirely unexpected as allele frequencies of certain loci vary with different breeds/ ethnicities/species and many known Copy Number Variants behave similarly to ordinary markers as regards Mendelian segregation. It is also well known in many instances, species/breeds/ethnicities show variation not only in marker allele frequencies, but also in the extent of Linkage Disequilibrium between markers. Thus it is worth investigating the extent of association between Copy Number Variants in different populations. In this paper we will investigate the extent of correlations between selected Copy Number Variants in different human populations and show that statistically significant correlations exist and are strongly population dependent.
基金This work was supported by US National Institutes of Health(NIH)grants R01LM013067,R01CA217992,and R21CA248138 to T.L.
文摘Human microbiome studies have exploded in number in recent years with the advent of high-throughput sequencing methods.The dramatic increase in sensitivity facilitated by deep-sequencing capability has led to hundreds of studies characterizing microbial communities in multiple human tissues,as well as the relationships between the composition of these communities and disease.
文摘Mutations in the human mitochondrial genome have been observed in all types of human cancer,indicating that mutations might contribute to tumorigenesis,metastasis,recurrence,or drug response.This possibility is appealing because of the known shift from oxidative metabolism to glycolysis,known as the Warburg effect,that occurs in malignancy.Mitochondrial DNA(mtDNA)mutations could either bematernally inherited and predispose to cancer(germ line mutations)or occur sporadically in the mtDNA of specific tissues(rissue-or tumor-specific somatic mutations)and contribute to the tumor initiation and progression process.High-throughput sequencing technologies now enable comprehensive detection of mtDNA variation in tissues and bodily fluids,with the potential to be used as an early detectiontool that may impact the treatment of cancer.Here,we discuss insights into the roles of mtDNA mutations in carcinogenesis,highlighting the complexities involved in the analysis and interpretation of mitochondrial genomic content.technical challenges in studying their contribution to pathogenesis,and the value of mtDNA mutations in developing early detection,diagnosis,prognosis,and therapeuticstrategics for cancer.
