Introduction

1-Human Whole Exome Sequencing

Whole exome sequencing (WES) utilizes high-throughput sequencing to analyze over 20,000 genes per individual, a process enhanced by sequence capture technology. This approach focuses on all protein-coding regions, constituting approximately 1% of the entire genome but accounting for 85% of identified disease-causing variants. WES facilitates the molecular diagnosis of genetic diseases, offering insight into novel mutations and emerging pathogenic mechanisms. In comparison to whole genome sequencing, WES boasts a superior sequencing depth and yields more efficient data. (Meyts, 2016)

Exome sequencing has emerged as a swift and efficient approach for diagnosing or assisting in the diagnosis of diseases. It can be applied during the prenatal stage to identify fetal abnormalities and postnatally following the observation of specific phenotypes. One notable advantage of exome sequencing lies in its capacity to discern whether genetic abnormalities are inherited from parents or arise spontaneously during gametogenesis or gestation (de novo or genetic mosaicism, respectively). (Jay
P. Ross, 2020)

This screening serves to guide ongoing medical interventions or serves as a foundation for genetic counseling. While genetic assistance in diagnosis extends beyond Exome Sequencing (Genome Sequencing and panel sequencing are also utilized), the cost-effectiveness, speed, and interpretability of Exome Sequencing position it as a preferred method. With the amalgamation of insights derived from association studies and additional functional validation of variants, the capability to derive diagnoses from Exome Sequencing data is expected to grow. (Jay P. Ross, 2020)

As an illustration, when confronted with an ambiguous phenotype in a newborn, the success rates of obtaining a diagnosis through Exome Sequencing are steadily increasing, ranging from approximately 50% to 80% across all cases. The extent of success is influenced by the severity of the phenotype and the diversity of potential diagnoses (Jay P. Ross, 2020)

Applications of Human Whole Exome Sequencing

Human whole exome sequencing has proven to be a valuable resource for researchers, providing solutions to a variety of advanced research and clinical inquiries, including:

  • Studying genome variants through exon detection
  • Investigating pathogenic mechanisms and molecular characterization of samples in both research and clinical settings
  • Utilizing cancer biopsy as a diagnostic tool
  • Identify Disease-Causing Variants in Inherited Human Diseases (Choi, 2012)

Benefits of Genoxvision Human Whole Exome Sequencing

  • hWES concentrates on exome regions, allowing for higher sequencing depth with substantially less data of excellent quality compared to WGS.
  • hWES enhances analysis sensitivity, facilitating the detection of rare mutations.
  • The company’s exceptional professional bioinformatics pipeline and internationally acclaimed software guarantee that our customers consistently receive reliable and publication-ready data.

hWES Specifications: DNA Sample Requirements

hWES Specifications: Sequencing and Analysis

Clinical Human Whole Exome Sequencing

Clinical exome sequencing has swiftly become an integral part of the clinical strategy for individuals with rare diseases. It is now applied to a diverse array of clinical presentations, necessitating a comprehensive exploration for causal variants across the spectrum of genetically diverse Mendelian disorders. (Lee, 2015)

The precision of genetic studies relies on the accuracy of diagnosis, the pleiotropy of variants within a particular gene, and the established association of variants with an outcome. Identifying a precise diagnosis presents challenges, given the similarity or overlap of symptoms in several diseases and disorders. Pleiotropic genes, whose variants can manifest in various diseases, can diminish diagnostic effectiveness. Consequently, diseases with genetic heterogeneity, featuring numerous known genetic causes, derive greater benefit from an impartial screening of all genes. (Jay P. Ross, 2020)

Exome sequencing, a technique that sequences the protein-coding portion of the genome, has swiftly found application in discovering genetic variants in research settings. Recent improvements in accuracy have facilitated the evolution of clinical exome sequencing (CES), enabling the identification of mutations in patients suspected of having genetic diseases. (Lee, 2015)

The success rate of clinical Exome Sequencing appears to be lower for older patients exhibiting adult-onset phenotypes, ranging between approximately 25% and 50%. The variation in success rates attributed to age could stem from various factors, such as probands remaining pre-symptomatic until later in life or variations in the extent of research conducted on different diseases. (Jay P. Ross, 2020)

Applications of Human Whole Exome Sequencing

  • Starting Materials: DNA, Whole Blood, Saliva, and Buccal Swab
  • Sequencing Platform:
  • Exome Capture:
  • Sequencing Coverage:
  • Turnaround Time:
  • Quality Assurance: Performed by Licensed Personnel in Certified Laboratory
  • Deliverables: FASTQ, BAM, VCF Files, and Interpretation (optional)
  • Data Transfer: FTP, AWS and Data Uploading Services

Clinical validation parameters

Specimen Requirements

We accept whole blood, buccal swab, saliva, and extracted DNA (from whole blood, Buccal swabs, or saliva) for germline WES.