Genome Medicine, 2015 While the cost of whole genome sequencing (WGS) is approaching the realm of routine medical tests, it remains too tardy to help guide the management of many acute medical conditions.
Neil A. Miller +20 more
semanticscholar +1 more source
Growth disorders caused by variants in epigenetic regulators: progress and prospects
Frontiers in EndocrinologyEpigenetic modifications play an important role in regulation of transcription and gene expression. The molecular machinery governing epigenetic modifications, also known as epigenetic regulators, include non-coding RNA, chromatin remodelers, and enzymes
Julian C. Lui
doaj +1 more source
GemTools: A fast and efficient approach to estimating genetic ancestry [PDF]
arXiv, 2011 To uncover the genetic basis of complex disease, individuals are often measured at a large number of genetic variants (usually SNPs) across the genome. GemTools provides computationally efficient tools for modeling genetic ancestry based on SNP genotypes.
arxiv
Analysis of DTC nutrigenetic services in Italy: state of the art, agreement to the ESHG statement and future outlooks [PDF]
, 2012 Background: In both USA and Europe operate companies selling Direct-to-consumer genetic tests (DTC). These tests are offered to healthy people aiming to identify predispositions to complex diseases and to take preventive measures.
Alessandra Cianflone +7 more
core +1 more source
Integrated analysis of variants and pathways in genome-wide association studies using polygenic models of disease [PDF]
arXiv, 2012 Many common diseases are highly polygenic, modulated by a large number genetic factors with small effects on susceptibility to disease. These small effects are difficult to map reliably in genetic association studies. To address this problem, researchers have developed methods that aggregate information over sets of related genes, such as biological ...
arxiv
Fertility preservation for genetic diseases leading to premature ovarian insufficiency (POI)
Journal of Assisted Reproduction and Genetics, 2021 A. La Marca, E. Mastellari
semanticscholar +1 more source
PLoS Medicine, 2015 Cathie Sudlow and colleagues describe the UK Biobank, a large population-based prospective study, established to allow investigation of the genetic and non-genetic determinants of the diseases of middle and old age.
C. Sudlow +18 more
semanticscholar +1 more source
Importance of DNA Sequencing for Abnormal Hemoglobins Detected by HPLC Screening
Turkish Journal of Hematology, 2020 Duran Canatan +4 more
doaj +1 more source
Mitochondrial response to nutrient availability and its role in metabolic disease
EMBO Molecular Medicine, 2014 Metabolic inflexibility is defined as an impaired capacity to switch between different energy substrates and is a hallmark of insulin resistance and type 2 diabetes mellitus (T2DM).
Arwen W Gao +2 more
doaj +1 more source
Supervised Heterogeneous Multiview Learning for Joint Association Study and Disease Diagnosis [PDF]
arXiv, 2013 Given genetic variations and various phenotypical traits, such as Magnetic Resonance Imaging (MRI) features, we consider two important and related tasks in biomedical research: i)to select genetic and phenotypical markers for disease diagnosis and ii) to identify associations between genetic and phenotypical data.
arxiv