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Insights

WES WGS Panels: Which is the best NGS approach?

The rapidly decreasing cost and time required for next-generation sequencing (NGS) has expanded its application, particularly in the diagnosis of rare diseases. Annually, 250 gene-disease associations…

News of the Week

[November 24, 2022] News of the Week

Rare disease diagnostics & researchAt the National Society of Genetic Counselors(NSGC) annual meeting, Fulgent Genetics' Han Chao presented the benefits of parent-initiated newborn screening genetic…

Interview

ASHG 2022: Interview with poster presenter from 3billion

With our study results this year, 3billion participated in the American Society of Human Genetics (ASHG), the world’s largest genetics held in Los Angeles, USA,…

News of the Week

[November 17, 2022] News of the Week

Rare disease diagnostics & researchThe Korean government announced that it will build a national database for 1 million people from 2024 to 2032 through The National…

My Odyssey

Wilson Disease: Diagnosis story

A boy diagnosed with Wilson disease A few months ago, I received a phone call from a pediatric neurology specialist regarding one of his patients. I…

News of the Week

[November 10, 2022] News of the Week

Rare disease diagnostics & researchBC Platforms CEO Tero Silvola announced that Centogene joined the biobank analytics platform BCRquest.com. BC Platforms helps bio companies develop new…

News of the Week

[November 03, 2022] News of the Week

Rare disease diagnostics & research3billion participated in the American Society of Human Genetics (ASHG) Annual Conference, the world's largest human genetics and genomics academic conference. Researchers…

Insights

Rare Diseases in Movies: The Life of Patients with Rare Diseases

Do You Ever Wonder About the Lives of Patients with Rare Diseases? Although a “rare disease” can mean different things, it generally refers to a disease…

News of the Week

[October 27, 2022] News of the Week

Rare disease diagnostics & researchResearchers at Korea University in South Korea and the Institute for Basic Science (BIS) have identified the cause of West Syndrome. West…

Interview

Interview with Dr. Jinu Han from Yonsei Severance Hospital

The third guest of Good Doctor Season 1 is Professor Jinu Han from Gangnam Severance Hospital. Professor Jinu Han is a specialist in pediatric eye diseases…

News of the Week

[October 20, 2022] News of the Week

Rare disease diagnostics & researchThe FDA published guidance on what types of Clinical Decision Support(CDS) software are considered medical devices or exempted from regulation. The…

Insights

History and genetic diseases

How hereditary diseases changed our history—from ancient Egypt and the House of Habsburg to the House of Romanov Introduction Whether in the East or the…

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