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DNA barcoding through the use of amplified regions of the ribosomal operon, such as the 16S gene, is a routine method to gain an overview of the microbial taxonomic diversity within a sample without the …
Read PDFOver the past decade, the spotted wing Drosophila, Drosophila suzukii, has invaded Europe and America and has become a major agricultural pest in these areas, thereby prompting intense research activities to better understand its biology. …
Read PDFGenomic structural variations, previously considered rare events, are widely recognized as a major source of inter-individual variability and hence, a major hurdle in optimum patient stratification and disease management. Herein, we focus on large complex …
Read PDF<h4>Background</h4>One ongoing concern about CRISPR-Cas9 genome editing is that unspecific guide RNA (gRNA) binding may induce off-target mutations. However, accurate prediction of CRISPR-Cas9 off-target activity is challenging. Here, we present SMRT-OTS and Nano-OTS, two novel, …
Read PDFThe wide implementation of next-generation sequencing (NGS) technologies has revolutionized the field of medical genetics. However, the short read lengths of currently used sequencing approaches pose a limitation for the identification of structural variants, sequencing …
Read PDFGenome structural variation (SV) contributes strongly to trait variation in eukaryotic species and may have an even higher functional significance than single-nucleotide polymorphism (SNP). In recent years, there have been a number of studies associating …
Read PDF<b>Purpose:</b> Exon deletions make up to 80% of mutations in the DMD gene, which cause Duchenne and Becker muscular dystrophy. Exon 45-55 regions were reported as deletion hotspots and intron 44 harbored more than 25% …
Read PDF[This corrects the article DOI: 10.3389/fgene.2021.638220.].
Read PDFHigh quality reference genomes are crucial to understanding genome function, structure and evolution. The availability of reference genomes has allowed us to start inferring the role of genetic variation in biology, disease, and biodiversity conservation. …
Read PDFExpanded carrier screening (ECS) has become an increasingly common technique to assess the genetic risks of individuals in the prenatal or preconception period. Unexpected variants unrelated to referral are being increasingly detected in asymptomatic individuals …
Read PDF<h4>Background</h4>With the rapid development of long-read sequencing technologies, it is possible to reveal the full spectrum of genetic structural variation (SV). However, the expensive cost, finite read length and high sequencing error for long-read data …
Read PDFT cell receptors (TCRs) recognize peptide fragments presented by the major histocompatibility complex (MHC) and are critical to T cell-mediated immunity. Recent data have indicated that genetic diversity within TCR-encoding gene regions is underexplored, limiting …
Read PDFThe immunoglobulins (IG) or antibodies and the T cell receptors (TR) are the antigen receptors of the adaptive immune responses (AIR) of jawed vertebrates (<i>Gnathostomata</i>). IMGT<sup>®</sup>, the international ImMunoGeneTics information system<sup>®</sup>, was created in 1989 …
Read PDF<h4>Background</h4>Arctium lappa L. (A. lappa), a plant of significant economic importance, is cultivated worldwide for its applications in food and medicine, presenting a compelling opportunity for genetic research within the Asteraceae family. Despite the importance …
Read PDF<h4>Background</h4>Yellow pitaya (Selenicereus megalanthus, 2n = 4x = 44) breeding remains severely hindered due to the lack of a reference genome.<h4>Results</h4>Here, we present a high-quality chromosome-level genome assembly of yellow pitaya using PacBio HiFi sequencing …
Read PDFIt has been more than 20 years since the publication of the C57BL/6J mouse reference genome, which has been a key catalyst for understanding the biology of mammalian diseases. However, the mouse reference genome still …
Read PDF<h4>Background</h4>Understanding how populations diverge is one of the most compelling questions in evolutionary biology but our grasp on the genomic mechanisms underpinning divergence is limited to a handful of species. Indeed, we know even less …
Read PDFHigh-quality genomic resources are important for accurate assessments of adaptive evolution in rapidly evolving island endemic species. The golden lancehead (Bothrops insularis) is a critically endangered venomous species endemic to the Queimada Grande island located …
Read PDF<h4>Background</h4>Because grapevine (Vitis vinifera L.) cultivars are highly heterozygous, they must be clonally propagated to preserve their varietal attributes. Over extended cultivar propagation, somatic mutations arise and can generate new phenotypes useful for intra-varietal improvement. …
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