NA Sequencing

Whole Genome Sequencing (WGS)

WGS offers a broad, unbiased approach to genetic analysis and is used to determine the complete DNA sequence of an organism’s genome, including both coding and non-coding regions. The NGS is a deep sequencing method that detects both common and rare genetic variations, identifies genetic mutations associated with complex disorders, finds mutations driving tumor growth (helping to guide personalized treatments), assesses individual responses to drugs (based on genetic makeup), elucidates genetic variation across populations, and supports precision medicine. Of course, WGS is more expensive and data-intensive than targeted sequencing.

ChIP Sequencing (ChIP-Seq)

In transcriptional regulation studies, ChIP-Seq is used to analyze protein-DNA interactions by combining chromatin immunoprecipitation (ChIP) with next-generation sequencing (NGS). ChIP-Seq identifies binding sites of specific proteins on the DNA across the entire genome. The method provides genome-wide, high-resolution mapping of protein-DNA interactions. The method is used in chromatin structure analysis, identification of transcription factor binding sites, enhancers, promoters, and other regulatory regions involved in gene regulation, and histone modification mapping. The method involves cross-linking of proteins to DNA (to preserve interactions), chromatin shearing, and immunoprecipitation (to pull down protein-DNA complexes). The DNA fragments bound by the protein are sequenced to map the protein's binding sites.

Whole Exome Sequencing (WES)

WES is a genomic technique that provides high-depth sequencing of all the protein-coding regions of the genome, known as the exome, which make up about 1-2% of the entire genome. WES is particularly useful when dealing with conditions that are known to be linked to protein-coding genes. The method is cost-effective compared to whole genome sequencing (WGS) and identifies mutations that cause genetic disorders, somatic mutations in cancer cells, novel disease-associated genes, and carrier status for inherited conditions.

Metagenomic Sequencing

Metagenomic sequencing is the study of genetic material recovered directly from the human microbiome or from environmental samples. The method uses next-generation deep and high-throughput sequencing technologies to sequence millions of DNA fragments in parallel. Unlike traditional methods, which focus on culturing specific organisms, metagenomics analyzes the DNA of all pathogens in clinical samples, even those that are hard to culture or not previously identified. The method does not require prior knowledge of the species present, making it useful for discovering novel microorganisms. Metagenomic sequencing is a powerful tool in both basic research and clinical diagnostics, providing a broad and detailed view of microbial communities.

RNA-Sequencing

RNA-Seq is a high-throughput sequencing technique used to provide a comprehensive and unbiased view of the entire transcriptome which includes all the RNA molecules in a cell. The deep sequencing feature can detect low-abundance transcripts with high sensitivity. RNA-Seq quantifies gene expression and measures the abundance of RNA molecules to determine which genes are active and to what extent. The method investigates how gene expression varies across different conditions, tissues, or developmental stages. Moreover, RNA-seq detects both known and novel RNA species, including mRNA, non-coding RNA, and microRNA, identifies novel transcripts or alternative splicing events, and investigates how gene expression changes in diseases like cancer, neurological disorders, or infections. In summary, RNA-Seq provides a detailed view of gene expression, splicing events, alternative isoforms, and RNA modifications, and is widely used in both basic research and clinical studies to understand gene function, regulation, and molecular mechanisms behind diseases.

Non-Coding RNA Sequencing

Non-coding RNA (ncRNA) sequencing is a method for analyzing RNA molecules that do not code for proteins but play critical roles in gene regulation and cellular processes. These includes a variety of RNA types, such as microRNA (miRNA), long non-coding RNA (lncRNA), small nucleolar RNA (snoRNA), Piwi-interacting RNA (piRNA), and other ncRNAs (including transfer RNA (tRNA), ribosomal RNA (rRNA), and more). Non-coding RNA sequencing expands our understanding of the transcriptome and offers many insights into gene regulation, chromatin remodeling, cellular pathways, understanding disease mechanisms, detecting dysregulation of ncRNAs, uncovering the roles of previously unannotated ncRNAs, and others. Moreover, non-coding RNAs are emerging as potential biomarkers for disease diagnosis, prognosis, and for identifying novel therapeutic targets in diseases where protein-coding genes alone do not fully explain the pathology.