Life as a Numerator: Putting the Person in Personal Genomics
Publication date: Available online 1 February 2016 Source:Applied & Translational Genomics Author(s): Sharon F. Terry (Source: Applied and Translational Genomics)
Source: Applied and Translational Genomics - February 2, 2016 Category: Genetics & Stem Cells Source Type: research
Reflections on My Daughter's DNA
Publication date: Available online 1 February 2016 Source:Applied & Translational Genomics Author(s): Hugh Young Rienhoff (Source: Applied and Translational Genomics)
Source: Applied and Translational Genomics - February 2, 2016 Category: Genetics & Stem Cells Source Type: research
Attitudes towards personal genomics among older Swiss adults: An exploratory study
Conclusion This study indicates a relatively positive overall attitude towards personal genomic testing among older Swiss adults, a group not typically represented in surveys about personal genomics. Genomic data of older adults can be highly relevant to late life health and maintenance of quality of life. In addition they can be an invaluable source for better understanding of longevity, health and disease. Understanding the attitudes of this population towards genomic analyses, although important, remains under-examined. (Source: Applied and Translational Genomics)
Source: Applied and Translational Genomics - February 2, 2016 Category: Genetics & Stem Cells Source Type: research
Exomes for we but not for thee
Publication date: Available online 2 February 2016 Source:Applied & Translational Genomics Author(s): Anonymous (Source: Applied and Translational Genomics)
Source: Applied and Translational Genomics - February 2, 2016 Category: Genetics & Stem Cells Source Type: research
‘Only a Click Away – DTC Genetics for Ancestry, Health, Love…and More: A View of the Business and Regulatory Landscape’
Publication date: Available online 2 February 2016 Source:Applied & Translational Genomics Author(s): Andelka M. Phillips I provide an overview of the current state of the direct-to-consumer genetic testing industry and the challenges different types of testing pose for regulation. I consider the range of services currently available, from health and ancestry to tests for child talent, paternity, and infidelity. In light of the increasingly blurred lines among different categories of testing, I call for a broader discussion of DTC governance. I stress the importance of shifting our attention from the activiti...
Source: Applied and Translational Genomics - February 2, 2016 Category: Genetics & Stem Cells Source Type: research
Emerging Translational Research Methods: A Sampling
Publication date: December 2015 Source:Applied & Translational Genomics, Volume 7 Author(s): Carol Isaacson Barash (Source: Applied and Translational Genomics)
Source: Applied and Translational Genomics - December 2, 2015 Category: Genetics & Stem Cells Source Type: research
Highly sensitive, non-invasive detection of colorectal cancer mutations using single molecule, third generation sequencing
We present the first study that applies the high read accuracy and depth of single molecule, real time, circular consensus sequencing (SMRT-CCS) to the detection of mutations in stool DNA in order to provide a non-invasive, sensitive and accurate test for CRC. In stool DNA isolated from patients diagnosed with adenocarcinoma, we are able to detect mutations at frequencies below 0.5% with no false positives. This approach establishes a foundation for a non-invasive, highly sensitive assay to screen the population for CRC and the early stage adenomas that lead to CRC. (Source: Applied and Translational Genomics)
Source: Applied and Translational Genomics - November 4, 2015 Category: Genetics & Stem Cells Source Type: research
Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA
Publication date: Available online 17 October 2015 Source:Applied & Translational Genomics Author(s): Sarra Dimassi, Thomas Simonet, Audrey Labalme, Nadia Boutry-Kryza, Amandine Campan-Fournier, Raphaelle Lamy, Claire Bardel, Mad-Hélénie Elsensohn, Florence Roucher-Boulez, Nicolas Chatron, Audrey Putoux, Julitta de Bellescize, Dorothée Ville, Laurent Schaeffer, Pascal Roy, Soumaya Mougou-Zerelli, Ali Saad, Alain Calender, Damien Sanlaville, Gaetan Lesca (Source: Applied and Translational Genomics)
Source: Applied and Translational Genomics - November 4, 2015 Category: Genetics & Stem Cells Source Type: research
Developing expertise in bioinformatics for biomedical research in Africa
Publication date: Available online 22 October 2015 Source:Applied & Translational Genomics Author(s): Thomas K. Karikari, Emmanuel Quansah, Wael M.Y. Mohamed Research in bioinformatics has a central role in helping to advance biomedical research. However, its introduction to Africa has been met with some challenges (such as inadequate infrastructure, training opportunities, research funding, human resources, biorepositories and databases) that have contributed to the slow pace of development in this field across the continent. Fortunately, recent improvements in areas such as research funding, infrastruct...
Source: Applied and Translational Genomics - November 4, 2015 Category: Genetics & Stem Cells Source Type: research
Identification and conformational analysis of putative microRNAs in Maruca vitrata (Lepidoptera: Pyralidae)
In this study, we perform BLAST on all known miRNAs against the transcriptome data of M. vitrata and thirteen miRNAs were identified. These miRNAs were characterised and their target genes were identified using TargetScan and were functionally annotated using FlyBase. The importance of the structure of pre-miRNA in the Drosha activity led to study the backbone torsion angles of predicted pre-miRNAs (mvi-miR-9751, mvi-miR-649-3p, mvi-miR-4057 and mvi-miR-1271) to identify various nucleotide triplets that contribute to the variation of torsion angle values at various structural motifs of a pre-miRNA. (Source: Applied and Translational Genomics)
Source: Applied and Translational Genomics - November 4, 2015 Category: Genetics & Stem Cells Source Type: research
Application of smart infrastructure systems approach to precision medicine
Publication date: Available online 26 October 2015 Source:Applied & Translational Genomics Author(s): Diddahally R. Govindaraju, Anuradha M. Annaswamy All biological variation is hierarchically organized dynamic network system of genomic components, organelles, cells, tissues, organs, individuals, families, populations and metapopulations. Individuals are axial in this hierarchy, as they represent antecedent and attendant aspects of health, disease, evolution and medical care. Humans show individual specific genetic and clinical features such as complexity, cooperation, resilience, robustness, vulnerability...
Source: Applied and Translational Genomics - November 4, 2015 Category: Genetics & Stem Cells Source Type: research
Empowered genome community: leveraging a bioinformatics platform as a citizen–scientist collaboration tool
Publication date: Available online 5 September 2015 Source:Applied & Translational Genomics Author(s): Katherine Wendelsdorf, Sohela Shah There is on-going effort in the biomedical research community to leverage Next Generation Sequencing (NGS) technology to identify genetic variants that affect our health. The main challenge facing researchers is getting enough samples from individuals either sick or healthy – to be able to reliably identify the few variants that are causal for a phenotype among all other variants typically seen among individuals. At the same time, more and more individuals are having th...
Source: Applied and Translational Genomics - September 29, 2015 Category: Genetics & Stem Cells Source Type: research
Widening participation would be key in enhancing bioinformatics and genomics research in Africa
Publication date: Available online 16 September 2015 Source:Applied & Translational Genomics Author(s): Thomas K. Karikari, Emmanuel Quansah, Wael M.Y. Mohamed Bioinformatics and genome science (BGS) are gradually gaining roots in Africa, contributing to studies that are leading to improved understanding of health, disease, agriculture and food security. While a few African countries have established foundations for research and training in these areas, BGS appear to be limited to only a few institutions in specific African countries. However, to improve the use of BGS in Africa will require pragmatic eff...
Source: Applied and Translational Genomics - September 17, 2015 Category: Genetics & Stem Cells Source Type: research
OncDRS: An Integrative Clinical and Genomic Data Platform for Enabling Translational Research and Precision Medicine
Publication date: Available online 14 September 2015 Source:Applied & Translational Genomics Author(s): Jomol Mathew, Ameet Pathak, John Orechia, Yunling Shi, Aniket Nawani, Andrey Belozerov, Caitlin Fontes, Camille Lakhiani, Chetan Jawale, Chetansharan Patel, Daniel Quinn, Dmitry Botvinnik, Eddie Mei, Elizabeth Cotter, James Byleckie, Mollie Ullman-Cullere, Padam Chhetri, Poornima Chalasani, Purushotham Karnam, Ronald Beaudoin, Sandeep Sahu, Yelena Belozerova We live in the genomic era of medicine, where a patient’s genomic/molecular data is becoming increasingly i...
Source: Applied and Translational Genomics - September 15, 2015 Category: Genetics & Stem Cells Source Type: research
Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders
Publication date: Available online 4 September 2015 Source:Applied & Translational Genomics Author(s): Svetlana Gorokhova, Mathieu Cerino, Yves Mathieu, Sébastien Courrier, Jean-Pierre Desvignes, David Salgado, Christophe Béroud, Martin Krahn, Marc Bartoli Massively parallel sequencing is rapidly becoming a widely used method in genetic diagnostics. However, there is still no clear consensus as to which approach can most efficiently identify the pathogenic mutations carried by a given patient, while avoiding false negative and false positive results. We developed a targeted exome approach (M...
Source: Applied and Translational Genomics - September 5, 2015 Category: Genetics & Stem Cells Source Type: research
