Cancer genetics and genomics is the study of how our genetic profiles are linked to the onset or progression of malignancies. Mutations leading to cancer can be inherited or acquired (also called somatic). Cancer genetics and genomic studies evaluate how such mutations relate to cancer. Additionally, genetic and genomic studies can determine how an individual will respond to therapy and may help determine the best course of treatment for cancer.
Perhaps the greatest surprise of genetic studies of human disease is that 90% of top-scoring disease-associated loci lie outside protein-coding regions. This has increased the urgency of mapp...
Technological advances in high throughput, low cost DNA sequencing coupled with the availability of a high quality reference assembly allow us to interrogate the genome with greater precision...
Every major scientific and technological revolution in history has been driven by one thing: access to data. Today, the availability of Big Data from a wide variety of sources is transforming...
Cancers exhibit abnormal molecular signatures associated with disease initiation and progression. Molecular signatures could improve cancer screening, detection, drug development and selectio...
Please click here to watch this webinar On DemandsiRNA-mediated silencing of gene expression has revolutionized the study of biology by enabling rapid and unbiased loss-of-function studies to...
Soiled-bedding sentinels are not always efficient in detecting pathogens in rodent colonies. In this context, PCR-based testing can be more sensitive and is being advocated as adjunct to trad...
Advances in genomic research have led to identification of the majority of the drivers of tumor progression. However, our understanding of the molecular mechanisms propelling tumor growth is...
Uncovering the genetic lesions underpinning cancer through genomic profiling in a clinical setting could provide insights into possible treatment options for oncologists and their patients. N...
The era of omics has ushered in the hope for personalized medicine. Proteomic and genomic strategies that allow unbiased identification of genes and proteins and their post-transcriptional a...
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...
Illumina next-generation sequencing (NGS) and microarray technologies are revolutionizing cancer research, enabling cancer variant discovery and detection and molecular monitoring. Join u...
The comprehensive, multidimensional molecular characterization of tumors and the individuals in which they have developed is transforming cancer definition, diagnosis, treatment, and preventi...
Patients with chromosomal rearrangements resulting in fusion proteins are among the most responsive to published targeted therapy. For example, targeting of the EML4-ALK fusion in non-small c...
Rare disorder analysis has been facilitated by the declining cost of sequencing. Despite numerous success stories the underlying cause remains unexplained in >50% cases, emphasizing the ne...
The comprehensive, multidimensional molecular characterization of tumors and the individuals in which they have developed is transforming cancer definition, diagnosis, treatment, and preventi...
Medical applications of genetics and genomics have been advancing dramatically since completion of the sequencing of the human genome. The cost of DNA sequencing has plummeted, leading to the...
In this presentation I describe pathway based analyses of genotyping data to identify pathways related to the development of complex diseases, with a focus on lung cancer and selected autoimm...
Understanding how genes coordinate their expression across cells in a growing embryo can provide insights into the transcriptional programs that control development. Intercellular variability...
High-throughput short-read DNA sequencing has revolutionized our ability to measure genetic variation in the form of single-nucleotide polymorphisms (SNPs) in human genomes. However, ~75% of...
A recent publication in Nature Genetics1 analyzed TCGA data, and classified solid tumors into two mutually exclusive classes: C class tumors, driven by copy number alterations; and M class tu...
Genome and exome sequencing are widely used for both basic and clinical research and diagnosis. Although sequencing costs have dropped dramatically and technology and algorithms used for call...
Perhaps the greatest surprise of genetic studies of human disease is that 90% of top-scoring disease-associated loci lie outside protein-coding regions. This has increased the urgency of mapp...
Technological advances in high throughput, low cost DNA sequencing coupled with the availability of a high quality reference assembly allow us to interrogate the genome with greater precision...
Every major scientific and technological revolution in history has been driven by one thing: access to data. Today, the availability of Big Data from a wide variety of sources is transforming...
Cancers exhibit abnormal molecular signatures associated with disease initiation and progression. Molecular signatures could improve cancer screening, detection, drug development and selectio...
Please click here to watch this webinar On DemandsiRNA-mediated silencing of gene expression has revolutionized the study of biology by enabling rapid and unbiased loss-of-function studies to...
Soiled-bedding sentinels are not always efficient in detecting pathogens in rodent colonies. In this context, PCR-based testing can be more sensitive and is being advocated as adjunct to trad...
Advances in genomic research have led to identification of the majority of the drivers of tumor progression. However, our understanding of the molecular mechanisms propelling tumor growth is...
Uncovering the genetic lesions underpinning cancer through genomic profiling in a clinical setting could provide insights into possible treatment options for oncologists and their patients. N...
The era of omics has ushered in the hope for personalized medicine. Proteomic and genomic strategies that allow unbiased identification of genes and proteins and their post-transcriptional a...
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...
Illumina next-generation sequencing (NGS) and microarray technologies are revolutionizing cancer research, enabling cancer variant discovery and detection and molecular monitoring. Join u...
The comprehensive, multidimensional molecular characterization of tumors and the individuals in which they have developed is transforming cancer definition, diagnosis, treatment, and preventi...
Patients with chromosomal rearrangements resulting in fusion proteins are among the most responsive to published targeted therapy. For example, targeting of the EML4-ALK fusion in non-small c...
Rare disorder analysis has been facilitated by the declining cost of sequencing. Despite numerous success stories the underlying cause remains unexplained in >50% cases, emphasizing the ne...
The comprehensive, multidimensional molecular characterization of tumors and the individuals in which they have developed is transforming cancer definition, diagnosis, treatment, and preventi...
Medical applications of genetics and genomics have been advancing dramatically since completion of the sequencing of the human genome. The cost of DNA sequencing has plummeted, leading to the...
In this presentation I describe pathway based analyses of genotyping data to identify pathways related to the development of complex diseases, with a focus on lung cancer and selected autoimm...
Understanding how genes coordinate their expression across cells in a growing embryo can provide insights into the transcriptional programs that control development. Intercellular variability...
High-throughput short-read DNA sequencing has revolutionized our ability to measure genetic variation in the form of single-nucleotide polymorphisms (SNPs) in human genomes. However, ~75% of...
A recent publication in Nature Genetics1 analyzed TCGA data, and classified solid tumors into two mutually exclusive classes: C class tumors, driven by copy number alterations; and M class tu...
Genome and exome sequencing are widely used for both basic and clinical research and diagnosis. Although sequencing costs have dropped dramatically and technology and algorithms used for call...
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