Variant mapping using mass spectrometry–based proteotyping as a diagnostic tool in von Willebrand disease
Background von Willebrand disease (VWD) is the most common inherited bleeding disorder,
characterized by either partial or complete von Willebrand factor (VWF) deficiency or by the …
characterized by either partial or complete von Willebrand factor (VWF) deficiency or by the …
A genome-wide association study of mass spectrometry proteomics using the Seer Proteograph platform
Genome-wide association studies (GWAS) with proteomics are essential tools for drug
discovery. To date, most studies have used affinity proteomics platforms, which have limited …
discovery. To date, most studies have used affinity proteomics platforms, which have limited …
[HTML][HTML] Bridging the Gap From Proteomics Technology to Clinical Application: Highlights From the 68th Benzon Foundation Symposium
Highlights•Mass spectrometry–based proteomics is ready to transform clinical
diagnostics.•Spatial proteomics revolutionizes disease mechanism studies.•Population …
diagnostics.•Spatial proteomics revolutionizes disease mechanism studies.•Population …
MS-based proteomics of body fluids: the end of the beginning
JM Bader, V Albrecht, M Mann - Molecular & Cellular Proteomics, 2023 - ASBMB
Accurate biomarkers are a crucial and necessary precondition for precision medicine, yet
existing ones are often unspecific and new ones have been very slow to enter the clinic …
existing ones are often unspecific and new ones have been very slow to enter the clinic …
Non-linear genetic regulation of the blood plasma proteome
Although thousands of genetic variants are linked to human traits and diseases, the
underlying mechanisms influencing these traits remain largely unexplored. One important …
underlying mechanisms influencing these traits remain largely unexplored. One important …
[PDF][PDF] Modelling genetic effects on molecular phenotypes through to disease risk
T Dupuis - 2024 - discovery.dundee.ac.uk
1.1. 1 Variation in human complex traits and diseases is affected by genetic and
environmental factors The field of genetics emerged towards the end of the 19th and early …
environmental factors The field of genetics emerged towards the end of the 19th and early …