Human Genetics October eCatalogue
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Contents Click below to explore… 3) • Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting and Interpretation of Result • Design of Large-Insert Jumping Libraries for Structural Variant Detection Using Illumina Sequencing • Virtual Issue: The Best of Case Reports
4) • Using SomaticSniper to Detect Somatic Single Nucleotide Variants • Measuring error rates in genomic perturbation screens: gold standards for human functional genomics • Getting Published in the Life Sciences 5) • BEDTools: The Swiss-Army Tool for Genome Feature Analysis • Human Genome Project: Reassessment and Philosophical Analysis 6) • Significance of case reports in the advancement of medical scientific knowledge • Virtual Issue: Design and Analytic Approaches in Sequencing Studies • MalaCards: A Comprehensive Automatically-Mined Database of Human Diseases
7) • SEO For Authors • Publishing Open Access with Wiley 8) • Genetics and Genomics of Human Longevity • Special Issue: The TP53 Gene Network in a Post-Genomic Era – • Special Issue: Neural Tube Defects 9) • Special Issue: Personalized Medicine and Clinical Genetics • Genetics and genomic medicine in Saudi Arabia • Genetics in Nursing
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Virtual Issue: The Best of Case Reports – American Journal of Medical Genetics: Part A Case reports occupy a crucial place in the discovery and investigation of rare diseases, an important theme in genetic medicine. The purpose of this Virtual Issue in the American Journal of Medical Genetics is to highlight and celebrate the Best of Case Reports published in the Journal. These reports represent the highest standard of papers reporting on clinical observations in the medical genetics literature.
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Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting and Interpretation of Results - S. Zneimer This guide discusses chromosomal abnormalities and how best to report and communicate lab findings in research and clinical settings. Providing a standard approach to writing cytogenetic laboratory reports, the guide further covers useful guidance on implementing International System for Human Cytogenetic Nomenclature in reports. Part one of the guide explores chromosomal, FISH, and microarray analysis in constitutional cytogenetic analyses, while part two looks at acquired abnormalities in cancers. Both sections provide illustrative examples of chromosomal abnormalities and how to Read More communicate these findings in standardized laboratory reports.
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Design of Large-Insert Jumping Libraries for Structural Variant Detection Using Illumina Sequencing – Current Protocols in Human Genetics Next-generation sequencing is an important and efficient tool for the identification of structural variation, particularly balanced chromosomal rearrangements, because such events are not routinely detected by microarray and localization of altered regions by karyotype is imprecise. The protocol described here explains one type of large-insert “jumping library” and the steps required to generate such a library for multiplexed sequencing using Illumina sequencing technology. This approach allows for cost-efficient multiplexing of samples and provides a very high yield of fragments with large inserts, or “jumping” fragments.
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Measuring error rates in genomic perturbation screens: gold standards for human functional genomics - EMBO Molecular Systems Biology To improve the quality of information derived from these screens, and to provide a framework for understanding the capabilities and limitations of CRISPR technology, we derive gold �standard reference sets of essential and nonessential genes in cancer cell lines.
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Using SomaticSniper to Detect Somatic Single Nucleotide Variants - Current Protocols in Bioinformatics In the last 5 years, the advent of massively parallel sequencing has revolutionized cancer genomics by allowing for the detection of a wide spectrum of tumor-specific variant types. The simplest of these variants to detect are the SNVs. Despite this fact, detection of somatic SNVs is far from a solved problem. In this protocol, we outline the recommended usage for SomaticSniper, in identifying SNVs, and discuss its strengths and weaknesses.
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Getting Published in the Life Sciences - Richard J. Gladon, William R. Graves, and J. Michael Kelly The goal of this book is to make it easier for scientists, especially those new to scientific writing, to write about their results and to get their manuscripts accepted in peer-reviewed journals. The book covers each step throughout the submission process, from organizing and outlining the manuscript, presenting statistical data and results, to what happens during the in -house manuscript review process and what to do if an article is initially rejected. In addition to providing practical exercises on these topics, the book focuses on helping writers distil their research into concise take-home messages for readers, in order to convey information as clearly as possible to the target audience. Find a sample chapter introducing the book and publishing by clicking on the button on the right!
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BEDTools: The Swiss-Army Tool for Genome Feature Analysis Current Protocols in Bioinformatics Technological advances have enabled the use of DNA sequencing as a flexible tool to characterize genetic variation and to measure the activity of diverse cellular phenomena such as gene isoform expression and transcription factor binding. Extracting biological insight from the experiments enabled by these advances demands the analysis of large, multi-dimensional datasets. This unit describes the use of the BEDTools toolkit for the exploration of high-throughput genomics datasets. Several protocols are presented for common genomic analyses, demonstrating how simple BEDTools operations may be combined to create bespoke pipelines addressing complex questions. Find the protocol online for free at the button on the right!
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Human Genome Project: Reassessment and Philosophical Analysis The discovery of DNA signaled the beginning of the science of molecular biology and the race to map the human genome was quickly won, bringing with it a huge number of exciting possibilities, as well as many challenges, both technical and ethical. This article explores the history of the discovery in the context of its potential benefits to mankind and moral issues.
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Significance of case reports in the advancement of medical scientific knowledge – American Journal of Medical Genetics: Part A In this present study, three questions about case reports are posed by the author: Do journals still publish single case reports? What do medical journals call these reports? And how should we classify reports of single clinical observations? The author proposed a classification system for case reports in the human genetics literature. More dialogue and research is needed to examine the role of case reports in the medical scientific literature.
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Virtual Issue: Design and Analytic Approaches in Sequencing Studies – Genetic Epidemiology The papers selected in this virtual issue discuss topics such as: optimal number of unrelated individuals or family members to select for sequencing; two -stage designs; imputation to infer sequences; advantage and cost-efficiency of extreme phenotype sampling in rare-variant analyses; using linkage information to select pedigree members for sequencing; an approach for assigning weights based on sibpairs and observed odds ratios to identify rare and common variants; a Bayesian approach to identify rare variants within a gene; and an approach to use data from different sources to increase efficiency in making genotype calls for rare SNPs. All these articles are freely available Read More online.
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MalaCards: A Comprehensive Automatically-Mined Database of Human Diseases – Current Protocols in Bioinformatics MalaCards employs, among others, the proven automatic data-mining strategies established in the construction of GeneCards, our widely used compendium of human genes. The development of MalaCards poses many algorithmic challenges, such as disease name unification, integrated classification, gene-disease association, and disease-targeted expression analysis. MalaCards displays a Web card for each of >19,000 human diseases, with 17 sections, including textual summaries, related diseases, related genes, genetic variations and tests, and relevant publications. Also included are a powerful search engine and a variety of categorized disease lists. This unit describes two basic protocols to search and browse MalaCards effectively. Read More
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SEO For Authors Increase visibility to your articles with Wiley’s tips of SEO for authors! Search Engines are the largest source of online traffic to articles, which means they have to be able to find your article easily if you want it to be well-read. Take a look at this guide by Wiley Exchanges for some simple explanation and steps on how you can achieve this!
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Publishing Open Access with Wiley Want to publish your paper and have it available to read to all as soon as possible? Open Access publishing options exist for a number of Wiley journals. Click on the covers to learn more about the different options available to authors.
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Special Issue: Neural Tube Defects – Birth Defects Research: Part A Neural tube defects (NTDs) are among the most common serious birth defects. They include a spectrum of malformations that can be lethal, associated with significant disability, morbidity and mortality, or result in more modest impact on function and quality of life. The papers included in this issue of Birth Defects Research (Part A) provide a glimpse of the inter-disciplinary nature of research being conducted by the vigorous NTD research community.
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Genetics and Genomics of Human Longevity Remaining healthy to a great age is a state to which many would aspire: whether to pack more into life, or perhaps, just put off to a later date. For the human genome, this achievement is extraordinarily complex, involving many fundamental cellular processes. Our increasing understanding of the genetic and epigenetic regulation of aging gives us the potential to prevent age �related diseases and hopefully extend the human lifespan yet further.
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Special Issue: The TP53 Gene Network in a Post-Genomic Era – Human Mutation Inactivation of TP53 pathways are the most common defects observed in human cancer. This Special Issue from Human Mutation reviews several fundamental features of wild type and mutant TP53 proteins and their modifications, as well as animal models and clinical aspects such as recommendations for patient care. It also provides guidelines for reporting and annotating TP53 variants. The Special Issue is available to read for free online.
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Special Issue: Personalized Medicine and Clinical Genetics - Clinical Genetics The term ‘personalized medicine’ encompasses healthcare tailored to the needs of individual patients; a practice which the development of novel ‘next generation sequencing’ (NGS) technologies now promises to accelerate. This Special Issue from Clinical Genetics summarises recent research in genomic personalized medicine, and highlights its application in the treatment of breast cancer, Huntingdon disease, and more. The reviews from the Special Issue are freely available to read online here.
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Genetics and genomic medicine in Saudi Arabia - Molecular Genetics and Genomic Medicine It is clear that Saudi Arabia has been and will continue to be an important resource in the study of Mendelian genes, and recent technological advances are diversifying the relevance of this resource to the various fields of genomic medicine. The time has never been more opportune for Read More Online conducting genomic research in Saudi Arabia to empower Saudis to reap its promise of better health.
Genetics in Nursing - Journal of Advanced Nursing The progress in genetics can be applied to the entire spectrum of health care. The papers in JAN’s Genetics Virtual Issue discuss strategies to improve genetics competencies within nursing curricula and practice. Other papers cover the breadth of genetics knowledge, newly emerged genomic tests, and future possibilities for genetics research Read More Online in nursing science. Read these papers for free. 9
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