Pharmacogenomics in practice: A review and implementation guide
Considerable efforts have been exerted to implement Pharmacogenomics (PGx), the study
of interindividual variations in DNA sequence related to drug response, into routine clinical …
of interindividual variations in DNA sequence related to drug response, into routine clinical …
Genome-wide association testing beyond SNPs
Decades of genetic association testing in human cohorts have provided important insights
into the genetic architecture and biological underpinnings of complex traits and diseases …
into the genetic architecture and biological underpinnings of complex traits and diseases …
Contig: Self-supervised multimodal contrastive learning for medical imaging with genetics
High annotation costs are a substantial bottleneck in applying modern deep learning
architectures to clinically relevant medical use cases, substantiating the need for novel …
architectures to clinically relevant medical use cases, substantiating the need for novel …
GAWMerge expands GWAS sample size and diversity by combining array-based genotyping and whole-genome sequencing
R Mathur, F Fang, N Gaddis, DB Hancock… - Communications …, 2022 - nature.com
Genome-wide association studies (GWAS) have made impactful discoveries for complex
diseases, often by amassing very large sample sizes. Yet, GWAS of many diseases remain …
diseases, often by amassing very large sample sizes. Yet, GWAS of many diseases remain …
Use of Artificial Intelligence in Improving Outcomes in Heart Disease: A Scientific Statement From the American Heart Association
A major focus of academia, industry, and global governmental agencies is to develop and
apply artificial intelligence and other advanced analytical tools to transform health care …
apply artificial intelligence and other advanced analytical tools to transform health care …
[HTML][HTML] Tutorial: a statistical genetics guide to identifying HLA alleles driving complex disease
The human leukocyte antigen (HLA) locus is associated with more complex diseases than
any other locus in the human genome. In many diseases, HLA explains more heritability …
any other locus in the human genome. In many diseases, HLA explains more heritability …
Extent to which array genotyping and imputation with large reference panels approximate deep whole-genome sequencing
SC Hanks, L Forer, S Schönherr, J LeFaive… - The American Journal of …, 2022 - cell.com
Understanding the genetic basis of human diseases and traits is dependent on the
identification and accurate genotyping of genetic variants. Deep whole-genome sequencing …
identification and accurate genotyping of genetic variants. Deep whole-genome sequencing …
Physical activity, sedentary behavior, and type 2 diabetes: mendelian randomization analysis
Context The causality and pathways of the associations between physical activity and
inactivity and the risk of type 2 diabetes remain inconclusive. Objective We conducted an …
inactivity and the risk of type 2 diabetes remain inconclusive. Objective We conducted an …
Risk of recurrent stroke in Rotterdam between 1990 and 2020: a population-based cohort study
BP Berghout, D Bos, PJ Koudstaal… - The Lancet Regional …, 2023 - thelancet.com
Background After an initial stroke, current clinical practice is aimed at preventing recurrent
stroke. Thus far, population-based estimates on the risk of recurrent stroke remain scarce …
stroke. Thus far, population-based estimates on the risk of recurrent stroke remain scarce …
[HTML][HTML] Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics …
Disclaimer: This Points to Consider document is designed primarily as an educational
resource for clinical laboratory geneticists to help them provide quality clinical laboratory …
resource for clinical laboratory geneticists to help them provide quality clinical laboratory …