[작성자:] cms3billion

‘The Good Doctors’ is a programmed series of interviews to meet doctors who encounter patients with rare diseases every day and hear their stories. These interviews were planned to provide better insight for physicians by asking how genetic testing for rare diseases is conducted, how it’s used at their clinics, and how it can be…

A doctor may recommend genetic testing for your child if they suspect that he or she has a genetic disease. Let’s learn about when this happens and what you need to know to respond appropriately. Why, when and which genetic testing is appropriate for my child? Genetic disease in children Genetic disease can appear in different ways in…

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…