Results 21 to 30 of about 13,340,828 (402)
Modeling and Testing for Joint Association Using a Genetic Random Field Model [PDF]
, 2014 Substantial progress has been made in identifying single genetic variants predisposing to common complex diseases. Nonetheless, the genetic etiology of human diseases remains largely unknown.
Adler +24 more
core +2 more sources
Advances in CRISPR/Cas-based Gene Therapy in Human Genetic Diseases
Theranostics, 2020 CRISPR/Cas genome editing is a simple, cost effective, and highly specific technique for introducing genetic variations. In mammalian cells, CRISPR/Cas can facilitate non-homologous end joining, homology- directed repair, and single-base exchanges.
Shaomei Wu +4 more
semanticscholar +1 more source
The third generation sequencing: the advanced approach to genetic diseases
Translational Pediatrics, 2020 Genomic sequencing technologies have revolutionized mutation detection of the genetic diseases in the past few years. In recent years, the third generation sequencing (TGS) has been gaining insight into more genetic diseases owing to the single molecular
T. Xiao, Wenhao Zhou
semanticscholar +1 more source
Italian Journal of Pediatrics, 2017 A recent article from Pavone et al. published in the Italian Journal of Pediatrics entitled «Ataxia in children: early recognition and clinical evaluation» made an exhaustive overview of the large spectrum of pediatric ataxias.
H. Rahmoune +4 more
doaj +1 more source
Modeling viral infectious diseases and development of antiviral therapies using human induced pluripotent stem cell-derived systems [PDF]
, 2015 The recent biotechnology breakthrough of cell reprogramming and generation of induced pluripotent stem cells (iPSCs), which has revolutionized the approaches to study the mechanisms of human diseases and to test new drugs, can be exploited to generate ...
Barzon, Luisa +6 more
core +2 more sources
An Atlas of Genetic Correlations across Human Diseases and Traits
Nature Genetics, 2015 Identifying genetic correlations between complex traits and diseases can provide useful etiological insights and help prioritize likely causal relationships.
B. Bulik-Sullivan +12 more
semanticscholar +1 more source
New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.
Annual review of genomics and human genetics (Print), 2020 Accurate diagnosis is the cornerstone of medicine; it is essential for informed care and promoting patient and family well-being. However, families with a rare genetic disease (RGD) often spend more than five years on a diagnostic odyssey of specialist ...
T. Hartley +5 more
semanticscholar +1 more source
Scientific Reports, 2017 Abnormal nutrient metabolism is a hallmark of aging, and the underlying genetic and nutritional framework is rapidly being uncovered, particularly using C. elegans as a model. However, the direct metabolic consequences of perturbations in life history of
Arwen W. Gao +13 more
doaj +1 more source
1st INCF Workshop on Genetic Animal Models for Brain Diseases [PDF]
, 2011 The INCF Secretariat organized a workshop to focus on the “role of neuroinformatics in the processes of building, evaluating, and using genetic animal models for brain diseases” in Stockholm, December 13–14, 2009.
Holm Graessner, Olaf Riess
core +2 more sources
Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing
npj Genomic Medicine, 2020 Understanding causes of infant mortality shapes public health policy and prioritizes diseases for investments in surveillance, intervention and medical research.
S. Kingsmore +8 more
semanticscholar +1 more source