Copy number variation of TdDof controls solid-stemmed architecture in wheat
Proceedings of the National Academy of Sciences of the United States of America, 2020 Significance Solid-stemmed wheat cultivars are resistant to the wheat stem sawfly, an important agricultural pest. Here, we identify TdDof as the causal gene that controls stem solidness in wheat.
K. Nilsen +17 more
semanticscholar +1 more source
From omics to AI—mapping the pathogenic pathways in type 2 diabetes
FEBS Letters, EarlyView.Integrating multi‐omics data with AI‐based modelling (unsupervised and supervised machine learning) identify optimal patient clusters, informing AI‐driven accurate risk stratification. Digital twins simulate individual trajectories in real time, guiding precision medicine by matching patients to targeted therapies.
Siobhán O'Sullivan +2 more
wiley +1 more source
MONTAGE: a new tool for high-throughput detection of mosaic copy number variation
BMC Genomics, 2021 Background Not all cells in a given individual are identical in their genomic makeup. Mosaicism describes such a phenomenon where a mixture of genotypic states in certain genomic segments exists within the same individual.
Joseph T. Glessner +7 more
doaj +1 more source
A backward procedure for change-point detection with applications to copy number variation detection
, 2019 Change-point detection regains much attention recently for analyzing array or sequencing data for copy number variation (CNV) detection. In such applications, the true signals are typically very short and buried in the long data sequence, which makes it ...
Hao, Ning, Shin, Seung Jun, Wu, Yichao
core +1 more source
Obesity, starch digestion and amylase: association between copy number variants at human salivary (AMY1) and pancreatic (AMY2) amylase genes [PDF]
, 2015 The human salivary amylase genes display extensive copy number variation (CNV), and recent work has implicated this variation in adaptation to starch-rich diets, and in association with body mass index.
Abecasis +30 more
core +2 more sources
Cellular effects and clinical implications of SLC2A3 copy number variation
Journal of Cellular Physiology, 2020 SLC2A3 encodes the predominantly neuronal glucose transporter 3 (GLUT3), which facilitates diffusion of glucose across plasma membranes. The human brain depends on a steady glucose supply for ATP generation, which consequently fuels critical biochemical ...
G. C. Ziegler +4 more
semanticscholar +1 more source
Post‐selection inference for changepoint detection algorithms with application to copy number variation data [PDF]
Biometrics, 2018 Changepoint detection methods are used in many areas of science and engineering, for example, in the analysis of copy number variation data to detect abnormalities in copy numbers along the genome.
S. Hyun +3 more
semanticscholar +1 more source
Exploring lipid diversity and minimalism to define membrane requirements for synthetic cells
FEBS Letters, EarlyView.Designing the lipid membrane of synthetic cells is a complex task, in which its various roles (among them solute transport, membrane protein support, and self‐replication) should all be integrated. In this review, we report the latest top‐down and bottom‐up advances and discuss compatibility and complexity issues of current engineering approaches ...
Sergiy Gan +2 more
wiley +1 more source
Elusive copy number variation in the mouse genome.
PLoS ONE, 2010 BackgroundArray comparative genomic hybridization (aCGH) to detect copy number variants (CNVs) in mammalian genomes has led to a growing awareness of the potential importance of this category of sequence variation as a cause of phenotypic variation.
Avigail Agam +7 more
doaj +1 more source
Gene Co-expression Network and Copy Number Variation Analyses Identify Transcription Factors Associated With Multiple Myeloma Progression [PDF]
, 2019 Multiple myeloma (MM) has two clinical precursor stages of disease: monoclonal gammopathy of undetermined significance (MGUS) and smoldering multiple myeloma (SMM). However, the mechanism of progression is not well understood.
Abu Zaid, Mohammad +7 more
core +5 more sources