[카테고리:] 블로그 (Blog)
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What is Genetic Screening?
What is Genetic Screening? Genetic screening is a type of testing that is done to identify people who may be at increased risk for a particular genetic condition or for certain types of cancer. Genetic screening is typically done for people who do not have any symptoms of a genetic condition, but who may be at increased…
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Types of Pathogenic Variants in Rare Diseases and Their Diagnosis
What do you know about rare genetic diseases and how they are diagnosed? Understanding the Genetic Underpinnings of Rare Diseases Understanding the genetic basis of rare diseases is a complex but necessary task. The challenge begins with the diverse nature of pathogenic variants, which are pivotal in causing disease but vary significantly in their structure…
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Natural Language Processing and Text Mining for Interpretation of Genetic Variants
Introduction How many minutes does it usually take you to read news, blog posts, abstracts of research papers such as in Cell or Nature? If you are an expert in the field, it may only take a minute, and if you are not, perhaps even more than 4 minutes. Similarly, for the interpretation of genetic variants, it may…
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The Role of Genetic Testing in Clinical Trials: Advancing Rare Disease Research
Many clinicians are looking for the right type of genetic testing and the company for their clinical trials. There are a lot of genetic testing companies and labs around the world, and they all say they are the best choice, but that’s not true. Depending on the characteristics of the clinical trial, the most efficient test should…
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Sequencing your Whole Genome for Exome price
Now you can sequence your whole genome for exome price! Whole genome sequencing (WGS) is a technology which has revolutionized the field of genetics, allowing researchers and clinicians to study the entire DNA sequence of an organism. With the advent of next generation sequencing technologies, the cost if whole genome sequencing has decreased significantly in…
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The Importance of CAP Accreditation in Diagnostic Testing: 3billion’s Journey
3billion obtained CAP accreditation in December 2021 with an excellent score. Thanks to team members who worked day and night to prepare for the inspection, we wrapped up 2021 with good news. Once again, a big shoutout to everyone involved. Wherever diagnostic testing is offered, the words CAP-accredited or CLIA-certified naturally come up. Overseas doctors…
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The National Project of Bio Big Data (KDNA) Project in South Korea
What could we do with bio big data constructed from clinical and genetic information of more than a million people? What is the value of rare diseases in bio big data? Bio Big Data: Value and Limitations Bio big data refers to the genetic and clinical information of many people. By using the collected data,…
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What to Do After a Negative Genetic Test Result?
Receiving a negative genetic testing result can be disheartening, especially when you are seeking answers for an undiagnosed condition. However, there are several steps you can take after getting a negative result to navigate the situation and continue your diagnostic journey. Today we’ll talk about how to do that. Negative genetic testing result A negative result…
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CLIA Certification, is it important?
What is CLIA Certification? CLIA (Clinical Laboratory Improvement Amendments) certification is a federal certification program that ensures the quality and accuracy of laboratory testing performed on human specimens. It sets standards for laboratories that perform testing on human specimens for the purpose of diagnosis, prevention, and treatment of disease. Is CLIA Certification important? CLIA certification is important because…
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Does Whole Exome Sequencing(WES) include mitochondrial DNA(mtDNA)?
Mitochondrial diseases are a group of genetic disorders that primarily affect the function of mitochondria, the energy-producing structures within cells. These disorders can arise from variants in either mitochondrial DNA or nuclear DNA. Variants in nuclear genes associated with mitochondrial function are often included in the targeted gene panels or exome sequencing tests used in…