By MedGenome Scientific Affairs Head and neck squamous cell carcinoma (HNSCC) ranks among the most prevalent cancers worldwide. In the United States, it is estimated that 58,450 new cases will be diagnosed in 2024, primarily affecting the oral cavity and pharynx1. Incidence rates among males are highest in non-Hispanic White and American Indian/Alaska Native individuals, with lower rates observed in Hispanic and Asian/Pacific Islander populations. Among females, incidence rates are elevated in non-Hispanic White and Asian/Pacific Islander individuals, while being lowest in Hispanic and Black ..read more

By MedGenome Scientific Affairs Introduction Colorectal cancer (CRC) stands as the third most prevalent cancer and the second leading cause of cancer-related deaths in the US. It is projected that in 2024, there will be around 106,590 new cases of colon cancer and 46,220 new cases of rectal cancer. CRC incidence is notably higher among African Americans and lowest in Asian Americans/Pacific Islanders. The five-year relative survival rate for localized CRC is estimated to be 91%, contrasting with a 14% rate for metastatic disease. Mortality rates among older adults have seen a decline in rece ..read more

By MedGenome Scientific Affairs National Cancer Prevention Month is observed in the month of February every year, with an objective to raise awareness and promote initiatives to prevent cancer. Cancer ranks as the second leading cause of death in the United States (US). Despite government-led cancer education initiatives, the battle against this disease remains complex, with variations in cancer risk persisting among different ethnic groups due to genetic predispositions and disparities in healthcare access. The incidence of different cancer types varies among population groups, influencing ..read more

By MedGenome Scientific Affairs Overview of Transcriptomics Transcriptome sequencing/RNA sequencing allows unbiased characterization of global gene expression profiles associated with different cells/tissues. As genes govern cellular function, transcriptome profile can provide valuable insights into molecular mechanisms operating in a biospecimen. RNA sequencing has transformed biological research by discovering almost all transcripts encoded by a genome including mRNAs, long non-coding RNAs and miRNAs. It has also revealed many alternatively spliced variants which is a common feature among ..read more

By MedGenome Scientific Affairs The field of immune repertoire profiling has witnessed remarkable advancements in recent years, revolutionizing our understanding of the immune system and its role in various diseases. One of the key techniques to understand this complex mechanism is TCR sequencing. TCR, or T-cell receptor, plays a crucial role in the adaptive immune response by recognizing and binding to specific antigens. By sequencing the TCR repertoire, researchers can gain valuable insights into the diversity and specificity of T-cell populations, leading to the development of novel treat ..read more

By Dr. Anwesha Ghosh, PhD, Manager – Scientific Affairs and Communications Specialist Genetic variation can range from changes at the level of single bases to whole-chromosomal aneuploidies. Structural variations (SVs) refer to a large alterations in chromosomal structure, typically encompassing larger than 1 Kbp of DNA. SVs include both balanced changes, such as inversions and some forms of translocations, as well as those that alter DNA copy number through duplications and deletions of chromosomal segments. SVs account for 25% of protein truncating mutations and are 3 times more likely to ..read more

By Dr. Harsha Gowda and MedGenome Scientific affairs Bioinformatics plays a vital role in analyzing complex high-throughput sequencing data, particularly in the realm of single cell research. The ability to analyze and interpret massive amounts of single cell data has revolutionized our understanding of cellular heterogeneity and its implications in various biological processes. The blog explores the capabilities of bioinformatics team at MedGenome in analyzing single cell sequencing data. Here, we explore different types of bioinformatics reports, the importance of data visualization and ge ..read more

By MedGenome Scientific Affairs The advent of single cell sequencing technologies has enabled us to understand and study the complexities of biological systems at a finer resolution. Traditional bulk sequencing methods provide an average representation of gene expression across a population of cells, masking the inherent heterogeneity that exists within a tissue or organism. However, single cell sequencing allows us to capture the maximal transcript diversity in a given cell and allows for a multi-model analysis strategy to generate meaningful insights. Single Cell Technologies In recent yea ..read more

By Derek Vargas, Scientific Affairs, MedGenome Inc Spatial transcriptomics is a technology that allows the analysis of gene expression patterns within a tissue sample in their spatial context. It enables researchers to obtain a comprehensive and high-resolution view of the transcriptome, the set of all expressed genes, across different regions of the tissue. In traditional transcriptomics, gene expression is measured from homogenized cell populations, which can mask important differences in gene expression between different cell types and regions. Spatial transcriptomics, on the other hand ..read more

By Dr. Chaitanya Ekkirala, Lab Director, NGS Operations, MedGenome Inc Overview The discovery of genetic and epigenetic mechanisms underlying the onset and progression of numerous diseases, including cancer, has helped redefine clinical research, diagnostic and treatment paradigms. Oncology research and diagnostics have undergone radical changes because of the development of next-generation sequencing (NGS). NGS has improved rationally designed personalized cancer medicine by identifying novel cancer mutations, detecting circulating tumor DNA (ctDNA), and discovering causative mutations for h ..read more