A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …
worldwide, often causing chronic illness, disability, and premature death. Traditional …
The road ahead in genetics and genomics
AL McGuire, S Gabriel, SA Tishkoff, A Wonkam… - Nature Reviews …, 2020 - nature.com
In celebration of the 20th anniversary of Nature Reviews Genetics, we asked 12 leading
researchers to reflect on the key challenges and opportunities faced by the field of genetics …
researchers to reflect on the key challenges and opportunities faced by the field of genetics …
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical …
Disclaimer: This statement is designed primarily as an educational resource for medical
geneticists and other clinicians to help them provide quality medical services. Adherence to …
geneticists and other clinicians to help them provide quality medical services. Adherence to …
Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations
Most loci identified by GWASs have been found in populations of European ancestry (EUR).
In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including …
In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including …
The Human Pangenome Project: a global resource to map genomic diversity
The human reference genome is the most widely used resource in human genetics and is
due for a major update. Its current structure is a linear composite of merged haplotypes from …
due for a major update. Its current structure is a linear composite of merged haplotypes from …
Does “AI” stand for augmenting inequality in the era of covid-19 healthcare?
D Leslie, A Mazumder, A Peppin, MK Wolters… - bmj, 2021 - bmj.com
Does “AI” stand for augmenting inequality in the era of covid-19 healthcare? Page 1 the bmj |
BMJ 2021;372:n304 | doi: 10.1136/bmj.n304 1 ARTIFICIAL INTELLIGENCE AND COVID-19 …
BMJ 2021;372:n304 | doi: 10.1136/bmj.n304 1 ARTIFICIAL INTELLIGENCE AND COVID-19 …
Genomics of disease risk in globally diverse populations
Risk of disease is multifactorial and can be shaped by socio-economic, demographic,
cultural, environmental and genetic factors. Our understanding of the genetic determinants …
cultural, environmental and genetic factors. Our understanding of the genetic determinants …
Rates and classification of variants of uncertain significance in hereditary disease genetic testing
E Chen, FM Facio, KW Aradhya, S Rojahn… - JAMA Network …, 2023 - jamanetwork.com
Importance Variants of uncertain significance (VUSs) are rampant in clinical genetic testing,
frustrating clinicians, patients, and laboratories because the uncertainty hinders diagnoses …
frustrating clinicians, patients, and laboratories because the uncertainty hinders diagnoses …
Evaluating the promise of inclusion of African ancestry populations in genomics
AR Bentley, SL Callier, CN Rotimi - NPJ genomic medicine, 2020 - nature.com
The lack of representation of diverse ancestral backgrounds in genomic research is well-
known, and the resultant scientific and ethical limitations are becoming increasingly …
known, and the resultant scientific and ethical limitations are becoming increasingly …
Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases
D Bick, M Jones, SL Taylor, RJ Taft… - Journal of medical …, 2019 - jmg.bmj.com
Up to 350 million people worldwide suffer from a rare disease, and while the individual
diseases are rare, in aggregate they represent a substantial challenge to global health …
diseases are rare, in aggregate they represent a substantial challenge to global health …