Joint mouse–human phenome-wide association to test gene function and disease risk [PDF]
Nature Communications, 2016 Phenome-wide association is a novel method that links sequence variants to a spectrum of phenotypes and diseases. Here the authors generate detailed mouse genetic and phenome data which links their phenome-wide association study (PheWAS) of mouse to ...
Xusheng Wang +25 more
doaj +3 more sources
Towards a Compositional Framework for Describing Human Phenotypes. [PDF]
Adv Sci (Weinh)The Phenotype Assembly Method (PhenoAM) decomposes phenotype variables into measurable Features and typed Qualifiers, enabling standardized, machine‐readable Phenome Data Elements (PhenoDEs) that preserve measurement context. Applied in the International Human Phenome Project (IHPP), the framework yields 58 371 PhenoDEs and supports component‐level ...
Hu W +11 more
europepmc +2 more sources
Refining Genetic Instruments for Dietary Intake Mendelian Randomization Using Phenome-Wide Association Studies. [PDF]
Genet EpidemiolABSTRACT Most Mendelian randomization (MR) of dietary intake use the full set of genome‐wide significant (GWS) variants in the instrumental variable (IV), likely biasing causal estimates due to pleiotropy. To characterize the common methods to handle pleiotropy in dietary intake MR, we conducted a scoping review of the literature on dietary intake MR ...
Sutton KJ +7 more
europepmc +2 more sources
CRISPR-Scan: Cas13a Mismatch Tolerance Enabled Ultra-Multiplexed Detection of Same-Site Indels in Acute Myeloid Leukemia. [PDF]
Adv Sci (Weinh)Accurately detecting diverse same‐locus insertions or deletions (indels) remains challenging. This study reveals the mismatch‐tolerance profile of LwaCas13a and establishes CRISPR‐Scan, which uses a single crRNA to detect multiple same‐locus indels. The one‐pot assay detects nucleophosmin 1 (NPM1) mutant allele frequencies down to 0.01%, agrees with ...
Bai L +13 more
europepmc +2 more sources
Proteogenomic characterization of cholangiocarcinoma
Hepatology, EarlyView., 2022 Proteogenomic characterization of cholangiocarcinoma with therapeutic strategies Abstract Background and Aims Cholangiocarcinoma (CCA) is a highly heterogeneous cancer with limited understanding and few effective therapeutic approaches. We aimed at providing a proteogenomic CCA characterization to inform biological processes and treatment ...
Mengjie Deng +18 more
wiley +1 more source
Graduate Student Perspective on Organizing PSSS Events During Phenome 2020
, 2021 This project contains a PDF of a perspective called Graduate Student Perspective on Organizing PSSS Events During Phenome ...
Colleen F. Yanarella +3 more
core +2 more sources
Phenome-wide associations with genetically predicted height in non-Hispanic White individuals.
, 2022 Plot of phecodes versus -log10(p-value) for association with genetically-predicted height in non-Hispanic White participants in MVP. Phecodes were limited to single decimal place for clarity (e.g., 427.2 for atrial fibrillation or flutter is shown but ...
Kyong-Mi Chang (267170) +23 more
core +1 more source
Phenome-wide associations with genetically predicted height in non-Hispanic Black individuals.
, 2022 Plot of phecodes versus -log10(p-value) for association with genetically-predicted height in non-Hispanic Black participants in MVP. Phecodes were limited to single decimal place for clarity (e.g., 427.2 for atrial fibrillation or flutter is shown but ...
Kyong-Mi Chang (267170) +23 more
core +1 more source
Biobanking across the phenome - at the center of chronic disease research [PDF]
, 2013 Recognized public health relevant risk factors such as obesity, physical inactivity, smoking or air pollution are common to many non-communicable diseases (NCDs). NCDs cluster and co-morbidities increase in parallel to age.
Nicole M Probst-Hensch +5 more
core +2 more sources
The histone methyltransferase DOT1L is a new epigenetic regulator of pulmonary fibrosis
Cell Death and Disease, 2022 Idiopathic pulmonary fibrosis (IPF) is a progressive interstitial lung disease with increasing occurrence, high death rates, and unfavorable treatment regimens.
Di Yang +6 more
doaj +1 more source