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Many genome-wide association studies (GWAS) conducted over the past two decades have focused on testing the one-to-one association between genetic variants and complex diseases or phenotypes. Despite their considerable success, such one-to-one testing approaches are …
Read PDF<b>Introduction:</b> Recent advancements in genomic technologies have significantly improved the resolution of genetic variants driving rare genodermatoses, a heterogeneous group of inherited skin disorders caused by pathogenic variants affecting skin structure and function. However, many …
Read PDF<h4>Introduction</h4>A Trusted Research Environment (TRE) is a highly secure computer system where sensitive data is stored that researchers can access remotely and make use of in a safe setting. TREs can form federated networks when …
Read PDF<h4>Background</h4>Validated tools assessing oncological genetic counseling (OGC) quality are lacking.<h4>Methods</h4>We assessed OCG effectiveness using italian-translated version of the Genomics Outcome Scale (GOS) questionnaire. Clinical variables were collected and their association with different answers was assessed …
Read PDFThe mobilome, defined as the collection of mobile genetic elements within a bacterial genome, plays a role in the adaptation of bacteria to abiotic and biotic drivers. In particular, prophages have been reported to contribute …
Read PDF<h4>Purpose</h4>Valsartan, an angiotensin II receptor blocker, is widely used for hypertension and heart failure. While its cardiovascular benefits are established, its broader pharmacological effects remain incompletely characterized. This study aimed to identify genetic variants associated …
Read PDF<h4>Aims</h4>SCN5A-E1784K (c.5350G>A) is the most common variant associated with the long QT (LQTS) and Brugada syndromes (BrS). It can manifest variably as LQTS, BrS, and/or conduction disorders. This presents a challenge for risk stratification. We …
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Read PDFBACKGROUND: In livestock, understanding the genetic basis of adaptation to the environment is essential for enhancing resilience to climate change and sustaining productivity in diverse environments. Indigenous Ethiopian cattle represent an ideal model for such …
Read PDFWhile genomic testing is increasingly utilised to personalise cancer treatment, its complexity creates challenges in achieving informed consent. Partnering with patients, carers, researchers and health professionals, we developed a Question Prompt List (QPL) aiming to …
Read PDFPeanut (Arachis hypogaea L.), a major legume crop valued for its high oil content, displays complex genotypic-phenotypic interactions shaped by environmental influences, yet these relationships remain poorly understood. We present a high-throughput phenotyping framework that …
Read PDFThe current study reports the maiden investigation aimed at molecular characterization of population structure and the discovery of tag-SNPs in the indigenous Gaddi and Mudhol Hound breeds, along with four other foreign breeds owned in …
Read PDFAs large-scale genomic datasets are becoming abundant, new questions can now be posed in evolutionary biology. Although innovative methodological approaches are constantly developed to test these new hypotheses, their application to the study of nonmodel …
Read PDF<h4>Introduction</h4>Incidental findings (IF) can be yielded in genomic research that analyzes data from healthy participants or patients. The need for clear IF policies grows along with the increase in international genomic research, data collection and …
Read PDF<h4>Introduction</h4>While pathogen genomics using next-generation sequencing (NGS) has been recommended by the WHO as an essential tool for national communicable disease surveillance programmes, procurement and supply chain management (PSM) systems for this new technology are …
Read PDFAlzheimer's disease (AD) represents a critical global health challenge, with its prevalence and associated costs expected to double significantly by 2030 and 2050. While lifestyle interventions are crucial, sporadic late-onset AD has a substantial genetic …
Read PDFAvian genomes are typically stable, yet instances of chromosome fissions, fusions and translocations are known across various lineages. For example, multiple sex chromosome translocations have been described in the superfamily Sylvioidea. In this study, we …
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