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From guides to tips, get insights into rare diseases & genetic testing
38 posts

Comparing reanalysis policies of 5 rare disease diagnostics companies

Although many are struggling, the initial diagnosis rate of rare diseases remains low. It is because there is still insufficient information and the symptoms are very…


Orphan drug discovery using genomic data and artificial intelligence

According to the statistics, orphan drugs accounted for 58% of the newly approved drugs in 2020 and the total sale of orphan drugs accounted for approximately…


How can you diagnose mitochondrial disease using WES and WGS?

What is mitochondrial disease? Mitochondria is a small worm-like organelle that performs cellular respiration called oxidative phosphorylation. Oxidative phosphorylation is a complex biochemical pathway that produces…


Sample preparation guide for WES provided by a quality professional

In a previous post, we examined how QC is performed for a WES test for rare disease diagnosis. If QC fails, sequencing cannot proceed as usual,…


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…


Getting started with the rare disease database: OMIM

Are you curious about which rare disease is related to a particular gene? Or, want to find out the phenotype, inheritance pattern, and historical information of…


5 reasons patients with CA/DD/ID should get whole exome/genome sequencing tests

In 2021, the American College of Medical Genetics and Genomics (ACMG) suggested the following: “We strongly recommend that ES/GS be considered as a first- or…


How to read variant information in the rare diseases test reports (HGVS nomenclature)

Those of you who have received 3billion genetic test results may have seen variants found in the patient described in HGVS nomenclature. The concept of HGVS…


Can I order a genetic test for a rare disease only based on the diagnostic yield?

Introduction On the website of a company providing genetic testing for rare diseases, you can easily see "increases diagnostic yield by up to 20% compared…


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…


Big Data among Big Data: Genome Data

The term “big data” has become commonplace. There are many types of big data – big data in finance, such as consumer gender and time of purchase…


What CAP accreditation means for diagnostic testing

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…

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