Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data.

Journal of Human Genetics
Mullin Ho Chung YuBrian Hon Yin Chung

Abstract

The use of exome and genome sequencing has increased rapidly nowadays. After primary analysis, further analysis can be performed to identify secondary findings that offer medical benefit for patient care. Multiple studies have been performed to evaluate secondary findings in different ethnicities. However, relevant data are limited in Chinese. Here, with the use of a cohort consisted of 1116 Hong Kong Chinese exome sequencing data, we evaluated the secondary findings in the 59 genes recommended by the American College of Medical Genetics and Genomics. Fifteen unique pathogenic or likely pathogenic variants in 17 individuals were identified, representing a frequency of 1.52% in our cohort. Although 20 individuals harboured pathogenic or likely pathogenic variants in recessive conditions, none carried bi-allelic mutations in the same gene. Our finding was in accordance with the estimation from the American College of Medical Genetics and Genomics that about 1% individuals harbour secondary findings.

References

May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
May 17, 2013·European Journal of Human Genetics : EJHG·Carla G van ElUNKNOWN ESHG Public and Professional Policy Committee
Jun 22, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Robert C GreenUNKNOWN American College of Medical Genetics and Genomics
Aug 3, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Wylie BurkeRon Zimmern
Sep 24, 2013·American Journal of Human Genetics·Michael O DorschnerGail P Jarvik
May 3, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Lauren LawrenceCornelius F Boerkoel
Feb 28, 2015·GigaScience·Christopher C ChangJames J Lee
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
May 9, 2015·Journal of Medical Genetics·Kym BoycottUNKNOWN Canadian College of Medical Geneticists
Jul 25, 2015·Annals of Human Biology·Amanda Gomes, George V Dedoussis
Feb 14, 2017·American Journal of Human Genetics·Brent S Pedersen, Aaron R Quinlan
Jul 15, 2017·Experimental & Molecular Medicine·Soo Heon KwakYung-Jue Bang
Nov 13, 2017·Human Genetics·Clara Sze-Man TangMaria-Mercè Garcia-Barcelo
Mar 21, 2018·Molecular Genetics and Genomics : MGG·Abhinav JainVinod Scaria
Sep 8, 2018·Human Mutation·Ahmad N Abou TayounUNKNOWN ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI)

❮ Previous
Next ❯

Citations

Oct 9, 2021·Journal of Human Genetics·Wanna Chetruengchai, Vorasuk Shotelersuk

❮ Previous
Next ❯

Software Mentioned

Picard
PLINK
GATK
- Aligner
wANNOVAR
Burrows
ClinGen
Variant Tools ( )
ClinVar

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Layla ShahmirzadiKelly D Farwell Gonzalez
Genetics in Medicine : Official Journal of the American College of Medical Genetics
Mi-Ae JangChang-Seok Ki
Genetics in Medicine : Official Journal of the American College of Medical Genetics
Joseph T AlaimoSarah H Elsea
© 2021 Meta ULC. All rights reserved