Genome-first approach to mendelian cardiovascular disease
Since the 1990s cardiovascular genomics has been a popular area of research, heading toward a genome-first approach to the diagnosis and...
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WHOLE GENOME SEQUENCING (WGS)
Unleash the Power of Discovery
Next-generation research demands next-generation tools. Whole Genome Sequencing (WGS) offers unparalleled insight into the genetic makeup of organisms, revolutionising the way scientists approach research questions. By decoding the entire sequence of an organism's DNA, WGS goes beyond genes, revealing the intricate interplay between coding and non-coding regions that govern biological processes.
Coverage for any Application
100X - de novo assembly or rare mutations
30X - standard coverage for germline variant analysis
1X - low pass WGS (lpWGS) for population screening
The comprehensive view of the genome makes WGS a powerful tool for various applications:
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Discovery of novel genes and variants: WGS can identify entirely new genes and pinpoint previously unknown genetic variations that might contribute to phenotypes or disease mechanisms.
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Unraveling complex diseases: By analyzing the interplay between genes and regulatory elements in non-coding regions, WGS can shed light on the complex genetic underpinnings of diseases.
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Comparative genomics: Comparing whole genomes between different species allows researchers to understand evolutionary relationships and identify genes with specific functions.
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Functional genomics: WGS data can be used to explore how genes are regulated and how genetic variations might impact cellular processes.
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Personalized medicine: In the future, WGS has the potential to revolutionize personalized medicine by providing a complete genetic blueprint for individuals, allowing for more targeted therapies.
WGS Advantages
GERMLINE VARIANT DETECTION
SOMATIC VARIANT DETECTION
STRUCTURAL VARIANT DISCOVERY
COPY NUMBER VARIATION
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