STR profiling and Copy Number Variation analysis on single, preserved cells using current Whole Genome Amplification methods [PDF]
, 2017 The growing interest in liquid biopsies for cancer research and cell-based non-invasive prenatal testing (NIPT) invigorates the need for improved single cell analysis.
Cornelis, Senne +5 more
core +2 more sources
FEBS Letters, EarlyView.In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai +9 more
wiley +1 more source
Genetic copy number variation and general cognitive ability.
PLoS ONE, 2012 Differences in genomic structure between individuals are ubiquitous features of human genetic variation. Specific copy number variants (CNVs) have been associated with susceptibility to numerous complex psychiatric disorders, including attention-deficit ...
Andrew K MacLeod +20 more
doaj +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
Identification of CNVs and their association with the meat traits of Hanwoo
Journal of Animal Reproduction and Biotechnology, 2023 Background: Copy number variation (CNV) can be identified using next-generation sequencing and microarray technologies, the research on the analysis of its association with meat traits in livestock breeding has significantly increased in recent years ...
Chan Mi Bang +4 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
Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity [PDF]
, 2017 Background Salivary amylase in humans is encoded by the copy variable gene AMY1 in the amylase gene cluster on chromosome 1. Although the role of salivary amylase is well established, the consequences of the copy number variation (CNV) at AMY1 on ...
Armour, John A.L. +2 more
core +3 more sources
The significance of copy number variations in schizophrenia [PDF]
British Journal of Psychiatry, 2014 Rees et al [1][1] seek to replicate the association with schizophrenia of copy number variants (CNVs) involving putative schizophrenia loci in a large case-control study. They conclude that 11 of the 15 previously implicated loci were strongly associated with schizophrenia.
openaire +3 more sources
Structural insights into an engineered feruloyl esterase with improved MHET degrading properties
FEBS Letters, EarlyView.A feruloyl esterase was engineered to mimic key features of MHETase, enhancing the degradation of PET oligomers. Structural and computational analysis reveal how a point mutation stabilizes the active site and reshapes the binding cleft, expading substrate scope.
Panagiota Karampa +5 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