Exomes

EXOME SEQUENCING

The Next Generation Sequencing (NGS) has the potential of finding pathogenic variants responsible for complex phenotypes associated with rare diseases. The clinic sequencing and WGS appeared as reliable approaches for the diagnosis and characterization of rare diseases, especially those with complex phenotypes.



Logotipo | Sophia Genetics

To find casual variants from vast and complex genomic data sets, scientists need an analytical platform that is dependable and easy to use (SOPHiA DDM™) that best suits the needs of each laboratory to detect and prioritize the exact pathogenic variants.

EXONS REPRESENT AND HAVE ON AVERAGE

GENOME

MUTATIONS

TYPES OF EXOMES

EXOME

It allows prompt detection of genetic alterations present in the sample. Therefore, there is a follow-up, diagnosis, and proper treatment.

WHOLE EXOME SOLUTION

It can be used to find the Molecular Basis of Disease in an affected individual. 

CLINICAL EXOME SOLUTION

It detects genetic mutations related to the clinical phenotype of the patient with medical relevance. Therefore, it helps with the early detection and treatment of this kind of genetic disease.



WHOLE EXOME SOLUTION (WES)

SOPHiA Whole Exome Solution v2 is an NGS-based application that supplies a streamlined end-to-end workflow, from sample to variant report, to accelerate rare and inherited disease research.

This updated gene content is combined with the analysis and interpretation capabilities of the SOPHiA DDM™ platform.

COVERAGE

This solution covers the coding regions (± 5 bp of the intron regions) of more than 19,000 RefSeq genes, allowing a complete study of the patient's genes.

DETECTION

It also allows the detection of SNV and Indels and guarantees a high percentage of readings in the target and uniformity of coverage, even in regions rich in GC.

SPECIFICATIONS

Exoma_completo
  • Expertly designed solution with 19,425 genes optimized to supply uniform coverage across GC-rich regions for confident variant detection, including CNV detection in 97% of genes.
  • Full mitochondrial genome coverage, including heteroplasmy analysis, for increased sensitivity and precision for complex, heterogeneous variants.
  • Streamlined variant interpretation with the SOPHiA DDM™ platform’s integrated features, including trio analyses to analyze variants by inheritance mode and access to the most updated and trusted databases, such as OMIM and HPO.

CLINICAL EXOME SOLUTION (CES)

SOPHiA Clinical Exome Solution v2 is a customizable solution covering 4,490 genes related to rare and inherited diseases, while SOPHiA Clinical Exome Solution v3 is designed with 4,728 genes, including the entire mitochondrial genome and variants with known pathogenicity in deep introns/enhancer/promoter genes.

CES v2

It allows CNV detection for 98.1% of genes, even for areas with high GC-rich content.

CES v3

It allows a complete detection of mitochondrial genome variants, including the non-coding ones.

SPECIFICATIONS

  • Both solutions have a capture-based target enrichment kit, as well as the functionality and analytical capabilities of the SOPHiA DDM™ platform for data interpretation. 
  • They offer a wide coverage in the target areas and a precise variant analysis (SNV, Indel y CNV) in a single experiment, which drastically reduces the response time.

ARE YOU SEARCHING FOR MORE?

SOPHiA GENETICS
en_USEnglish
es_ESEspañol en_USEnglish