[HTML][HTML] Actionable genotypes and their association with life span in Iceland
BO Jensson, GA Arnadottir… - … England Journal of …, 2023 - Mass Medical Soc
Abstract Background In 2021, the American College of Medical Genetics and Genomics
(ACMG) recommended reporting actionable genotypes in 73 genes associated with …
(ACMG) recommended reporting actionable genotypes in 73 genes associated with …
Qatar genome: Insights on genomics from the Middle East
Despite recent biomedical breakthroughs and large genomic studies growing momentum,
the Middle Eastern population, home to over 400 million people, is underrepresented in the …
the Middle Eastern population, home to over 400 million people, is underrepresented in the …
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants
Arabic populations are underrepresented in large genome projects; therefore, the frequency
of clinically actionable variants among Arabs is largely unknown. Here, we investigated …
of clinically actionable variants among Arabs is largely unknown. Here, we investigated …
Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing
JF Borgio - Archives of Medical Science: AMS, 2021 - pmc.ncbi.nlm.nih.gov
More than 25 million DNA variations have been discovered as novel including major alleles
from the Arab population. Exome studies on the Saudi genome discovered> 3000 novel …
from the Arab population. Exome studies on the Saudi genome discovered> 3000 novel …
Burden of Mendelian disorders in a large Middle Eastern biobank
Background Genome sequencing of large biobanks from under-represented ancestries
provides a valuable resource for the interrogation of Mendelian disease burden at world …
provides a valuable resource for the interrogation of Mendelian disease burden at world …
Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals
O Demir, KA Saglam, M Yilmaz… - American Journal of …, 2024 - Wiley Online Library
Big data generated from exome sequencing (ES) and genome sequencing (GS) analyses
can be used to detect actionable and high‐penetrance variants that are not directly …
can be used to detect actionable and high‐penetrance variants that are not directly …
Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management
STUDY QUESTION What is the load, distribution and added clinical value of secondary
findings (SFs) identified in exome sequencing (ES) of patients with non-obstructive …
findings (SFs) identified in exome sequencing (ES) of patients with non-obstructive …
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study
Y Kim, JM Kim, HW Cho, HY Park, MH Park - Human Genetics, 2023 - Springer
Exome and genome sequencing (ES/GS) in genetic medicine and research leads to
discovering genomic secondary findings (SFs) unrelated to the purpose of the primary test …
discovering genomic secondary findings (SFs) unrelated to the purpose of the primary test …
Secondary findings in a large Pakistani cohort tested with whole genome sequencing
A Skrahin, HA Cheema, M Hussain… - Life Science …, 2023 - life-science-alliance.org
Studies on genomic secondary findings (SFs) are diverse in participants' characteristics,
sequencing methods, and versions of the ACMG SF list. Based on whole genome …
sequencing methods, and versions of the ACMG SF list. Based on whole genome …