Whole Genome Sequencing: is the process of determining the complete DNA sequence of an organism's genome. In order to do so, you must entail all of an organism's chromosomal DNA as well as DNA contained in the mitochondria and, for plants, in the chloroplast.
Technological advances allow for the large scale sequencing of the whole human genome. Most studies have generated population-based information on human diversity using low to intermediate co...
It is estimated that by the end of this year more than 1 million people worldwide will have had their genome sequenced. Genomic sequencing is increasingly being integrated into clinical care,...
The rapid implementation of next generation sequencing is changing how genetics and genomics are applied in a clinical setting. However, the quickly evolving technology can be challenging to...
Human breast tumors have been shown to exhibit extensive inter- and intra-tumor heterogeneity. While recent advances in genomic technologies have allowed us to deconvolute this heterogeneity,...
Emerging technologies facilitate basic science research, but their value in regulatory applications requires rigorous assessment and consensus within the research community. Next-generation s...
Technological advances have made genomic sequencing more affordable, efficient, and available. Questions related to the implementation and effects of large-scale sequencing in healthcare have...
New approaches to generate high-quality representations of human genomes and transcriptomes are now becoming available. In contrast to short-read “Whole-Genome” re-sequencing meth...
Advances in DNA sequencing technology are about to transform healthcare. Since completion of the human genome reference sequence ten years ago, there has been a 1-million fold im...
It has been estimated that every human being carries ~20 rare “natural human gene knockouts”-DNA variants in protein-coding regions of the genome that partially or completely inac...
Cancer remains the second leading cause of death in the United States. Most tumors arise from a myriad of genetic changes that dysregulate cell growth and prompt survival. Ident...
Recent advances in next-generation sequencing (NGS) have helped to accelerate the pace of discovery in the field of genetic disease research and testing. The ability to analyze multiple genes...
Medical genetics is a specialty of medicine that encompasses patients at all ages (prenatal, pediatric, adult), as well as all organ systems. As the genetic causes of more diseases have been ...
A century and a half after we first probed heritability, we risk forgetting one of Mendel's own basic findings, in rushing to broaden clinical genomics to lifelong care for all. Embracing...
The advent of the microarray technology in 2000 has paved the way for advanced translational research methods that use molecular markers such as microRNA, proteins, metabolites and copy numbe...
In December 2012 the UK Prime Minister announced the 100,000 genomes project to introduce whole genome sequencing for treatment into the UK National Health Service (NHS) o...
Introduction and adoption of whole-genome sequencing has enabled new methods of investigation in the quest for answers in diagnostic odyssey cases as well as in the broader study of genetic d...
Biomarkers, with their associated “tsunami” of publications, represent what is arguably one of the largest areas of scientific inquiry in the history of biomedicine. Touted as the...
The genome determines changes of the transcription profile upon environmental changes and finally determines how a cell reacts. A comparative genome and transcriptome analysis of the same sam...
Chromosomal microarray analysis (CMA) is an established technology, which has demonstrated great sensitivity and specificity for detecting genome-wide copy number variants (CNVs). CMA represe...
I will discuss the use of genomic technologies - mostly ultrahigh-throughput DNA sequencing - to study normal human biology and to determine what goes wrong when we have disease. First I wil...
Long noncoding RNAs (lncRNAs) are increasingly recognized as having key regulatory roles in development and disease. However, these regulatory molecules often have short half lives and are ex...
Advanced sequencing technologies have made population scale whole genome sequencing a possibility. However, current strategies for analysis of this data rely upon parallelization approaches t...
Formalin Fixed, Paraffin Embedded (FFPE) tissues are rapidly being adopted for transcriptome analysis in conjunction with targeted and whole genome sequencing. Harsh formaldehyde fixation an...
Both cell free DNA (cfDNA) and circulating tumor cells (CTC) represent important possible templates for mutation analysis of clinical samples. Each template has different theoretical advantag...
Technological advances allow for the large scale sequencing of the whole human genome. Most studies have generated population-based information on human diversity using low to intermediate co...
It is estimated that by the end of this year more than 1 million people worldwide will have had their genome sequenced. Genomic sequencing is increasingly being integrated into clinical care,...
The rapid implementation of next generation sequencing is changing how genetics and genomics are applied in a clinical setting. However, the quickly evolving technology can be challenging to...
Human breast tumors have been shown to exhibit extensive inter- and intra-tumor heterogeneity. While recent advances in genomic technologies have allowed us to deconvolute this heterogeneity,...
Emerging technologies facilitate basic science research, but their value in regulatory applications requires rigorous assessment and consensus within the research community. Next-generation s...
Technological advances have made genomic sequencing more affordable, efficient, and available. Questions related to the implementation and effects of large-scale sequencing in healthcare have...
New approaches to generate high-quality representations of human genomes and transcriptomes are now becoming available. In contrast to short-read “Whole-Genome” re-sequencing meth...
Advances in DNA sequencing technology are about to transform healthcare. Since completion of the human genome reference sequence ten years ago, there has been a 1-million fold im...
It has been estimated that every human being carries ~20 rare “natural human gene knockouts”-DNA variants in protein-coding regions of the genome that partially or completely inac...
Cancer remains the second leading cause of death in the United States. Most tumors arise from a myriad of genetic changes that dysregulate cell growth and prompt survival. Ident...
Recent advances in next-generation sequencing (NGS) have helped to accelerate the pace of discovery in the field of genetic disease research and testing. The ability to analyze multiple genes...
Medical genetics is a specialty of medicine that encompasses patients at all ages (prenatal, pediatric, adult), as well as all organ systems. As the genetic causes of more diseases have been ...
A century and a half after we first probed heritability, we risk forgetting one of Mendel's own basic findings, in rushing to broaden clinical genomics to lifelong care for all. Embracing...
The advent of the microarray technology in 2000 has paved the way for advanced translational research methods that use molecular markers such as microRNA, proteins, metabolites and copy numbe...
In December 2012 the UK Prime Minister announced the 100,000 genomes project to introduce whole genome sequencing for treatment into the UK National Health Service (NHS) o...
Introduction and adoption of whole-genome sequencing has enabled new methods of investigation in the quest for answers in diagnostic odyssey cases as well as in the broader study of genetic d...
Biomarkers, with their associated “tsunami” of publications, represent what is arguably one of the largest areas of scientific inquiry in the history of biomedicine. Touted as the...
The genome determines changes of the transcription profile upon environmental changes and finally determines how a cell reacts. A comparative genome and transcriptome analysis of the same sam...
Chromosomal microarray analysis (CMA) is an established technology, which has demonstrated great sensitivity and specificity for detecting genome-wide copy number variants (CNVs). CMA represe...
I will discuss the use of genomic technologies - mostly ultrahigh-throughput DNA sequencing - to study normal human biology and to determine what goes wrong when we have disease. First I wil...
Long noncoding RNAs (lncRNAs) are increasingly recognized as having key regulatory roles in development and disease. However, these regulatory molecules often have short half lives and are ex...
Advanced sequencing technologies have made population scale whole genome sequencing a possibility. However, current strategies for analysis of this data rely upon parallelization approaches t...
Formalin Fixed, Paraffin Embedded (FFPE) tissues are rapidly being adopted for transcriptome analysis in conjunction with targeted and whole genome sequencing. Harsh formaldehyde fixation an...
Both cell free DNA (cfDNA) and circulating tumor cells (CTC) represent important possible templates for mutation analysis of clinical samples. Each template has different theoretical advantag...
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