Recent technological development has enabled fast and cost-effective simultaneous analyses of several gene variants or sequence of even the whole genome. For medical practitioners this has created challenges although genomic information may be clinically useful in new applications such as finding out individual risk for diseases influenced by as many as 50,000 variable DNA regions or in detecting pharmacogenetic risks prior to prescribing a medicine. New digital tools have paved the way for utilization of genomic data via easy access and clear clinical interpretation for both doctor and patient. In this review we describe some of these tools and applications for clinical use.
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BMC Res Notes
January 2025
Bioinformatics Center, North-Eastern Hill University, Shillong, 793022, India.
Objectives: Nepenthes, sometimes known as tropical pitcher plants or monkey cups, is a carnivorous plant genus that contains more than 160 species. Nepenthes khasiana, India's sole representative of the genus, is a rare and endangered dioecious plant endemic to North-east India. Despite the fact that it is a prominent insectivorous plant in the Nepenthaceae family, genomic resources for the species are limited, making genomic breeding and understanding the genetic basis of botanical carnivory difficult.
View Article and Find Full Text PDFHum Genomics
January 2025
Department of Biology, Tor Vergata University of Rome, Via della Ricerca Scientifica 1, 00133, Rome, Italy.
Background: The Immunoglobulin Heavy Chain (IGH) genomic region is responsible for the production of circulating antibodies and warrants careful investigation for its association with COVID-19 characteristics. Multiple allelic variants within and across different IGH gene segments form a limited set of haplotypes. Previous studies have shown associations between some of these haplotypes and clinical outcomes of COVID-19.
View Article and Find Full Text PDFBMC Med Genomics
January 2025
Illumina Cambridge Ltd., Granta Park, Great Abington, Cambridge, UK.
Rearrangements involving the DUX4 gene (DUX4-r) define a subtype of paediatric and adult acute lymphoblastic leukaemia (ALL) with a favourable outcome. Currently, there is no 'standard of care' diagnostic method for their confident identification. Here, we present an open-source software tool designed to detect DUX4-r from short-read, whole-genome sequencing (WGS) data.
View Article and Find Full Text PDFRespir Res
January 2025
Microbial Antibodies and Technologies, Research and Early Development, Vaccines and Immune Therapies, BioPharmaceuticals R&D, AstraZeneca, Gaithersburg, MD, USA.
Chronic obstructive pulmonary disease (COPD) is a chronic lung disease characterized by airway obstruction and inflammation. Non-typeable Haemophilus influenzae (NTHi) lung infections are common in COPD, promoting frequent exacerbations and accelerated lung function decline. The relationship with immune responses and NTHi are poorly understood.
View Article and Find Full Text PDFBMC Genomics
January 2025
School of Life Sciences, Yunnan Normal University, Kunming, 650000, China.
Background: Pseudogalium is a new monotypic genus with two subspecies in China and one in Japan, which holds a distinctive phylogenetic position and ecological significance within the tribe Rubieae. Chloroplast genomes contain abundant information for resolving phylogenetic relationships. To investigate the phylogenetics of P.
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