Rare Disease Whole-Genome Sequencing (WGS)

At CD Genomics, we are dedicated to advancing our understanding of rare diseases through cutting-edge research. Our Rare Disease Whole-Genome Sequencing (WGS) service is tailored to researchers who are determined to unravel the genetic complexities of rare diseases.

Investigating the Genetic Underpinnings of Rare Diseases

Rare diseases often present elusive challenges due to their diverse phenotypes and complex genetic origins. Despite global efforts to catalog over 10,000 rare diseases, more than half of them remain shrouded in mystery with unknown genetic causes.

Some Variant Types of Rare Genetic Diseases

Diseases Variant Types
Multiple congenital anomalies CNV (most common), SNV, SV, Mitochondrial, STR (rarely)
Early onset or intractable epilepsy SNV (most common), all other variant types
Intellectual disability (moderate to severe) / Global developmental delay All variant types
Inborn errors of metabolism SNV and Indels (most common), Mitochondrial
Musculoskeletal disorders SNV, Indel, Mitochondrial, STR; less commonly CNV and SV

Rare diseases pose significant challenges due to their limited prevalence and often enigmatic genetic origins. WGS triumphs over these limitations, offering superior coverage, heightened sensitivity to structural and complex variants, and the potential for recurrent reanalysis to boost diagnostic efficacy.

Genetic Testing Methods

PCR Sanger Targeted NGS WES WGS
CNVs Limited
Repeat Expansions Limited
Structural Variants Limited

Our service leverages the latest advancements in next-generation sequencing (NGS) technology, enabling researchers to comprehensively explore the genetic makeup of rare disease samples. Through the utilization of Whole Genome Sequencing (WGS), we offer a holistic view of the genome, allowing for the detection of a wide range of genetic variations.

Our Distinctive Advantages

When you choose CD Genomics for Rare Disease Whole-Genome Sequencing, you benefit from a suite of advantages that ensure the utmost accuracy, reliability, and comprehensive insight:

Service Specifications

Service Specifications

Sample Requirements

  • Sample types: genomic DNA, formalin-fixed paraffin-embedded (FFPE) tissues
  • Purity: 1.8 ≤ OD260/280 ≤ 2.0, OD260/230 ≥ 2.0
  • Collection: DNA samples (stored in TE buffer or equivalent), FFPE samples (recommended cryopreservation). Please make sure that the DNA is not degraded
Service Specifications


  • Illumina NextSeq
Service Specifications

Bioinformatics Analysis

  • Turnaround time: within 6 weeks
  • Primary analysis: FASTQ to annotated VCF. Read alignment, Somatic SNP/Indel/CNV/SV/TMB detection and annotation
  • Custom bioinformatics analysis

Workflow of Our Service

DNA Extraction

Library Preparation: Our experts meticulously prepare libraries of DNA fragments, each tagged with unique identifiers. These libraries serve as the basis for subsequent sequencing.

Sequence Generation: The prepared libraries undergo state-of-the-art sequencing, producing vast amounts of genetic data. This raw data holds the key to unraveling the genetic mysteries of rare diseases.

Sequence Comparison: The sequenced DNA fragments are aligned with reference genomes, allowing us to pinpoint variations within the genetic code.

Mutation Detection: Cutting-edge algorithms analyze the alignment data to identify a spectrum of genetic variations, including single nucleotide variations (SNVs), insertions, deletions (indels), copy number variations (CNVs), and more. This critical phase uncovers potential pathogenic mutations associated with the rare disease.

Annotation and Filtering: Each detected mutation is meticulously annotated with information about its location, potential functional impact, and relevance to the rare disease phenotype. Rigorous filtering processes ensure that only the most pertinent mutations are considered for further analysis.

Mutation Classification and Interpretation: Our team of genetic experts classifies the filtered mutations based on established criteria, distinguishing between benign variants and those with clinical significance. This classification aids in interpreting the potential impact of each mutation on the rare disease.

Mutation Validation and Isolation Analysis: To ensure the accuracy of our findings, detected mutations undergo validation through additional methods. Isolation analysis helps confirm the presence of specific genetic variations.

Report Generation: The culmination of our research and analysis efforts results in a comprehensive research report. This report encompasses details about the detected mutations, their potential implications, and their relevance to the rare disease under investigation.

* For Research Use Only. Not for use in diagnostic procedures.

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