“Applied and Translational Genomics” — What is new?
Publication date: 1 December 2012 Source:Applied & Translational Genomics, Volume 1 Author(s): Dhavendra Kumar (Source: Applied and Translational Genomics)
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
Signatures of natural selection on genetic variants affecting complex human traits
Publication date: 1 December 2013 Source:Applied & Translational Genomics, Volume 2 Author(s): Ge Zhang , Louis J. Muglia , Ranajit Chakraborty , Joshua M. Akey , Scott M. Williams It has recently been hypothesized that polygenic adaptation, resulting in modest allele frequency changes at many loci, could be a major mechanism behind the adaptation of complex phenotypes in human populations. Here we leverage the large number of variants that have been identified through genome-wide association (GWA) studies to comprehensively study signatures of natural selection on genetic variants associated with complex ...
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
From PPROM to caul: The evolution of membrane rupture in mammals
We present evidence that intact membranes at parturition have evolved convergently in diverse mammals including horses, elephants, and bats. In order to gain insight into the molecular underpinnings of the evolution of enhanced membrane integrity we also used comparative genomics techniques to reconstruct the evolution of a subset of genes implicated in PPROM, and find that four genes (ADAMTS2, COL1A1, COL5A1, LEPRE1) show significant evidence of increased nonsynonymous rates of substitution on lineages with intact membranes as compared to those with ruptured membranes. Among these genes, we also discovered that 17 human S...
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
Evolutionary perspectives into placental biology and disease
Publication date: 1 December 2013 Source:Applied & Translational Genomics, Volume 2 Author(s): Edward B. Chuong , Roberta L. Hannibal , Sherril L. Green , Julie C. Baker In all mammals including humans, development takes place within the protective environment of the maternal womb. Throughout gestation, nutrients and waste products are continuously exchanged between mother and fetus through the placenta. Despite the clear importance of the placenta to successful pregnancy and the health of both mother and offspring, relatively little is understood about the biology of the placenta and its role in pregnancy-...
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
Maternal regulation of offspring development in mammals is an ancient adaptation tied to lactation
Publication date: 1 December 2013 Source:Applied & Translational Genomics, Volume 2 Author(s): Michael L. Power , Jay Schulkin The developmental origins of health and disease (DOHaD) is a paradigm for understanding metabolic diseases of modern humans. Vulnerability to disease is linked to perturbations in development during critical time periods in fetal and neonatal life. These perturbations are caused by environmental signals, often generated or transduced by the mother. The regulation of mammalian development depends to a large extent on maternal biochemical signals to her offspring. We argue that this ada...
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
Phylooncogenomics: Examining the cancer genome in the context of vertebrate evolution
Publication date: 1 December 2013 Source:Applied & Translational Genomics, Volume 2 Author(s): GuangJun Zhang , Tracy H. Vemulapalli , Jer-Yen Yang Currently, human cancer genomics is making great progress, and many mutations of new cancer driver genes have been detected at an unprecedented rate in a variety of human cancers. Many details of the genetic alterations in cancer cell genomes have been revealed by the massively parallel sequencing. Long-lasting aneuploidy caused large-scale somatic copy number alterations remains a difficulty as there are too many genes located on such big chromosomal fragments, ...
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
Disease consequences of human adaptation
Publication date: 1 December 2013 Source:Applied & Translational Genomics, Volume 2 Author(s): Justin C. Fay Adaptive evolution has provided us with a unique set of characteristics that define us as humans, including morphological, physiological and cellular changes. Yet, natural selection provides no assurances that adaptation is without human health consequences; advantageous mutations will increase in frequency so long as there is a net gain in fitness. As such, the current incidence of human disease can depend on previous adaptations. Here, I review genome-wide and gene-specific studies in which adaptive e...
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
Introduction to evolutionary genomic approaches to human disease
Publication date: 1 December 2013 Source:Applied & Translational Genomics, Volume 2 Author(s): Louis J. Muglia , Dhavendra Kumar (Source: Applied and Translational Genomics)
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
Practical, ethical and regulatory considerations for the evolving medical and research genomics landscape
Publication date: 1 December 2013 Source:Applied & Translational Genomics, Volume 2 Author(s): Gholson J. Lyon , Jeremy P. Segal Recent advances in sequencing technology are making possible the application of large-scale genomic analyses to individualized care, both in wellness and disease. However, a number of obstacles remain before genomic sequencing can become a routine part of clinical practice. One of the more significant and underappreciated is the lack of consensus regarding the proper environment and regulatory structure under which clinical genome sequencing and interpretation should be performed. T...
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
Incorporate gene signature profiling into routine molecular testing
Publication date: 1 December 2013 Source:Applied & Translational Genomics, Volume 2 Author(s): Neng Chen The success of gene and gene expression profiling, such as the Oncotype DX® test for breast cancer patients, demonstrates that as technology becomes more sophisticated molecular diagnostics will continue to play a more important role in disease management in the future. Such promises have been and continue to be enabled by advances in real-time PCR, microarray detection platforms and next generation sequencing technologies. Practical adoption of new technologies into routine clinical care, however, has not...
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
Curbing stem cell tourism in South Africa
Publication date: 1 December 2013 Source:Applied & Translational Genomics, Volume 2 Author(s): Madelein Meissner-Roloff , Michael S. Pepper Stem cells have received much attention globally due in part to the immense therapeutic potential they harbor. Unfortunately, malpractice and exploitation (financial and emotional) of vulnerable patients have also drawn attention to this field as a result of the detrimental consequences experienced by some individuals that have undergone unproven stem cell therapies. South Africa has had limited exposure to stem cells and their applications and, while any exploitation is ...
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
Pharmacogenomics, Theranostics and Personalized Medicine - the complexities of clinical trials: challenges in the developing world
Publication date: 1 December 2013 Source:Applied & Translational Genomics, Volume 2 Author(s): Nimita Limaye While the potential for the application of pharmacogenomics and theranostics to develop personalized healthcare solutions is enormous, multiple challenges will need to be addressed to get there. Understanding the complex interactions and detailed characterization of the functional variants of individual ADME (Absorption Distribution Metabolism Excretion) genes and drug target genes is needed to demonstrate clinical utility, using both a bottoms-up as well as a top–down approach. Clinical trials need t...
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
C-C chemokine receptor type five (CCR5): An emerging target for the control of HIV infection
Publication date: 1 December 2013 Source:Applied & Translational Genomics, Volume 2 Author(s): Fatima Barmania , Michael S. Pepper When HIV was initially discovered as the causative agent of AIDS, many expected to find a vaccine within a few years. This has however proven to be elusive; it has been approximately 30years since HIV was first discovered, and a suitable vaccine is still not in effect. In 2009, a paper published by Hutter et al. reported on a bone marrow transplant performed on an HIV positive individual using stem cells that were derived from a donor who was homozygous for a mutation in the CCR5 ...
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
Special Issue — Pharmacogenomics & personalized medicine, Journal of Applied and Translational Genomics
Publication date: 1 December 2013 Source:Applied & Translational Genomics, Volume 2 Author(s): Carol Isaacson Barash , Michael S. Pepper (Source: Applied and Translational Genomics)
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
Cloning and expression of dnaK gene from Bacillus pumilus of hot water spring origin
Publication date: 1 March 2014 Source:Applied & Translational Genomics, Volume 3, Issue 1 Author(s): Murugan Kumar , Radha Prasanna , Showkat Lone , Jasdeep Chatrath Padaria , Anil Kumar Saxena A set of thermotolerant strains isolated from hot springs of Manikaran and Bakreshwar (India) were selected with an aim to isolate dnak gene which encodes DnaK protein. The gene dnaK along with its flanking region was successfully amplified from 5 different strains (4 from Bakreshwar and one from Manikaran). Restriction fragment length polymorphism (RFLP) revealed that amplicons were almost identical in sequence. Th...
Source: Applied and Translational Genomics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
