[작성자:] Ashley Zhu

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 a specific rare disease? OMIM database is for you! OMIM database (https://omim.org, shortened for Online Mendelian Inheritance in Man) is a collection of data about human gene-phenotype relationships, genetic…

‘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…

For rare disease diagnostic testing, a sample is first collected from the patient. From the sample, genomic DNA is extracted and used for library preparation. Then, whole exome sequencing (WES) is performed. The data obtained through sequencing are processed to identify suspicious variants consistent with the patient’s symptoms, after which medical geneticists make a diagnosis.…

Rare genetic disorders are caused by variants in major functional genes. Most are SNV or INDEL variants, but SVs, such as CNVs or chromosomal variants, can also be the cause. Recently, a large-scale study has also been published showing that CNVs were identified in 11-12% more infants and children with neurodevelopmental disorders, mental retardation, and developmental disabilities…

DNA is contained in and can be extracted from blood, saliva, semen, skin cells, tissues, organs, bones, hair, mucus, perspiration, and fingernails among others1. DNA is the essential biological sample that is required for Next Generation Sequencing (NGS). However, when it comes to NGS, the aforementioned sources of DNA are not all used. Two common…

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 used to customize marketing advertisements, big data in traffic management, such as the number of accidents in the city used to improve road safety, and big data in…

Recently, Next Generation Sequencing (NGS) technology such as Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) has been increasingly used for the diagnosis of patients with rare diseases. By WES, about 80,000 to 100,000 genetic variants can be found per person. ACMG Standards and Guidelines are followed for variant interpretation and prioritization to ultimately identify one or two…