Ethnically-unique disease burden and limitations of current expanded carrier screening panels
Back to course
Pdf Summary
Asset Subtitle
Presenting Author - Chih-Ling Chen, MD; Co-Author - Ni-Chung Lee, MD, PhD; Co-Author - Yin-Hsiu Chien, MD, PhD; Co-Author - Wuh-Liang Hwu, MD, PhD; Co-Author - Miao-Zi Hung, Master; Co-Author - Yi-Lin Lin, Master; Co-Author - Shin-Yu Lin, MD, PhD; Co-Author - Chien-Nan Lee, MD;
Meta Tag
Exome sequencing
Genetic Testing
Co-Author Ni-Chung Lee, MD, PhD
Co-Author Yin-Hsiu Chien, MD, PhD
Co-Author Wuh-Liang Hwu, MD, PhD
Co-Author Miao-Zi Hung, Master
Co-Author Yi-Lin Lin, Master
Co-Author Shin-Yu Lin, MD, PhD
Co-Author Chien-Nan Lee, MD
Presenting Author Chih-Ling Chen, MD
Keywords
Expanded carrier screening
Genetic disorders
Ethnic variations
Genetic variations
Recessive diseases
COQ4 gene
PEX1 gene
OTC gene
IKBKG gene
Rare disorders

© 2024 American College of Medical Genetics and Genomics. All rights reserved.

Powered By