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One day, 3billion received a blood sample from an elderly European woman suffering from ataxia, on which whole-exome sequencing (WES) was performed to determine its cause. Following examination, she was diagnosed with Huntington disease. What is Huntington disease? Huntington disease is an inherited, progressive, and neurodegenerative disorder characterized by multiple symptoms, including chorea, impaired coordination,…

There was a male infant present with cryptorchidism and muscle weakness. Both parents of the child were unaffected, and there was no family history. The clinician suspected congenital myotonic dystrophy. The proband was an infant male present with cryptorchidism and muscle weakness. Both parents were unaffected and there was no family history. The clinician suspected…

Summary Keywords: genomic data privacy, anonymization, deidentification, differential privacy Introduction: the importance of genomic data privacy Several research initiatives are combining genomic data with other types of data, such as clinical data. In surveys, many researchers need to integrate various data into their research field for new scientific findings1. To integrate various data including genomic…

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…

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…

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…

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…

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…

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,…