Proteomic profiling platforms head to head: leveraging genetics and clinical traits to compare aptamer-and antibody-based methods
High-throughput proteomic profiling using antibody or aptamer-based affinity reagents is
used increasingly in human studies. However, direct analyses to address the relative …
used increasingly in human studies. However, direct analyses to address the relative …
Operating characteristics of the rank-based inverse normal transformation for quantitative trait analysis in genome-wide association studies
Quantitative traits analyzed in Genome-Wide Association Studies (GWAS) are often
nonnormally distributed. For such traits, association tests based on standard linear …
nonnormally distributed. For such traits, association tests based on standard linear …
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 …
Non-linear machine learning models incorporating SNPs and PRS improve polygenic prediction in diverse human populations
M Elgart, G Lyons, S Romero-Brufau… - Communications …, 2022 - nature.com
Polygenic risk scores (PRS) are commonly used to quantify the inherited susceptibility for a
trait, yet they fail to account for non-linear and interaction effects between single nucleotide …
trait, yet they fail to account for non-linear and interaction effects between single nucleotide …
Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed
Genetic studies on telomere length are important for understanding age-related diseases.
Prior GWASs for leukocyte TL have been limited to European and Asian populations. Here …
Prior GWASs for leukocyte TL have been limited to European and Asian populations. Here …
Whole genome sequence analysis of the plasma proteome in black adults provides novel insights into cardiovascular disease
Background: Plasma proteins are critical mediators of cardiovascular processes and are the
targets of many drugs. Previous efforts to characterize the genetic architecture of the plasma …
targets of many drugs. Previous efforts to characterize the genetic architecture of the plasma …
Genetic determinants of cardiometabolic and pulmonary phenotypes and obstructive sleep apnoea in HCHS/SOL
Y Zhang, M Elgart, N Kurniansyah, BW Spitzer… - …, 2022 - thelancet.com
Summary Background Obstructive Sleep Apnoea (OSA) often co-occurs with
cardiometabolic and pulmonary diseases. This study is to apply genetic analysis methods to …
cardiometabolic and pulmonary diseases. This study is to apply genetic analysis methods to …
A genome-wide association study discovers 46 loci of the human metabolome in the Hispanic Community Health Study/Study of Latinos
Variation in levels of the human metabolome reflect changes in homeostasis, providing a
window into health and disease. The genetic impact on circulating metabolites in Hispanics …
window into health and disease. The genetic impact on circulating metabolites in Hispanics …
Clinical laboratory test-wide association scan of polygenic scores identifies biomarkers of complex disease
Background Clinical laboratory (lab) tests are used in clinical practice to diagnose, treat, and
monitor disease conditions. Test results are stored in electronic health records (EHRs), and …
monitor disease conditions. Test results are stored in electronic health records (EHRs), and …
[HTML][HTML] Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program
Summary Whole-genome sequencing (WGS), a powerful tool for detecting novel coding and
non-coding disease-causing variants, has largely been applied to clinical diagnosis of …
non-coding disease-causing variants, has largely been applied to clinical diagnosis of …