The sequencing of the human genome at the turn of the 21st century was hailed as revealing the overwhelming genetic similarity of human groups. Scholars of genomics have critiqued the subsequent persistence of race-based genetic science, but were reassured that the wide availability of gene sequencing would end the use of race as a proxy for genetic difference. Once an individual's whole gene sequence could be read, they hoped, their ethnoracial classification would become redundant. At the same time, genome science was recognising that the differences between human genomes went beyond the genome sequence to the structure of the genome itself. 'Structural variation' between genomes, including insertions, deletions, translocations, inversions, and copy number variations, mean that the 'universal' reference genome used for genome sequencing is not so universal. As conventional, 'short-read' sequencing wrongly assumes that all genomes have the same structure, significant genetic variation can be missed. This paper examines the twin phenomena that have been posed as a solution to the biases of short-read sequencing: 'long-read' sequencing and 'ethnicity-specific reference genomes'. Long-read sequencing is a method of generating a genome sequence that can be assembled de novo rather than relying on the reference genome. In recent years, a number of countries including China, Korea, and Denmark have used long-read sequencing and de novo assembly to develop 'national' reference genomes. Our analysis of one ethnicity-specific reference genome project, the Korean Reference Genome (KOREF), finds that it unduly emphasises the importance of population structural variation, framed in nationalist terms, and discounts the importance of individual structural variation. We argue that the intellectual labour required to make a Korean reference genome a coherent concept works to extend the horizon of race, prolonging the temporality of the 'meantime' in which race remains a seemingly valid concept in genomic science.
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http://dx.doi.org/10.4436/JASS.97004 | DOI Listing |
Sci Data
December 2024
Department of Bio-Health Convergence, Kangwon National University, Chuncheon, 24341, Republic of Korea.
As molecular research on hemp (Cannabis sativa L.) continues to advance, there is a growing need for the accumulation of more diverse genome data and more accurate genome assemblies. In this study, we report the three-way assembly data of a cannabidiol (CBD)-rich cannabis variety, 'Pink Pepper' cultivar using sequencing technology: PacBio Single Molecule Real-Time (SMRT) technology, Illumina sequencing technology, and Oxford Nanopore Technology (ONT).
View Article and Find Full Text PDFAm J Kidney Dis
December 2024
Service de Néphrologie, Hémodialyse et Transplantation Rénale, Centre de référence MARHEA, CHRU Brest, Brest, France; Institut de Recherche Expérimentale et Clinique (IREC), UCLouvain, Brussels, Belgium. Electronic address:
Rationale & Objective: Monoallelic predicted Loss-of-Function (pLoF) variants in IFT140 have recently been associated with an autosomal dominant polycystic kidney disease (ADPKD)-like phenotype. This study sought to enhance the characterization of this phenotype.
Study Design: Case series.
Curr Microbiol
December 2024
Department of Biological Science, College of Science and Engineering, Sangji University, Wonju, 26339, Republic of Korea.
During the study of microbial diversity of forest soil in the Republic of Korea, a yellow pigment-producing, Gram-stain-negative, rod-shaped, motile bacterium was isolated and designated as strain 1W2. This strain grew at temperature of 10-37 °C, at pH of 5.0-9.
View Article and Find Full Text PDFBMC Cancer
December 2024
Department of Pathology, Fudan University Shanghai Cancer Center, and Shanghai Key Laboratory of Medical Epigenetics, International Co-laboratory of Medical Epigenetics and Metabolism, Institutes of Biomedical Sciences, Shanghai Medical College, Fudan University, Shanghai, China.
Background: Male breast cancer (MBC) is a rare malignancy, but its global incidence has shown a notable increase in recent decades. Factors such as limited health literacy, inadequate health education, and reluctance to seek medical attention contribute to the late-stage diagnosis of most MBC patients. Consequently, there is an urgent need for a highly specific and sensitive diagnostic approach to MBC.
View Article and Find Full Text PDFBMC Plant Biol
December 2024
College of Agronomy and Biotechnology, Key Laboratory for Crop Production and Smart Agriculture of Yunnan Province, Yunnan Agricultural University, Kunming, 650201, China.
Background: Yellow nutsedge (Cyperus esculentus, known as 'YouShaDou' in China, YSD) and purple nutsedge (Cyperus rotundus, known as 'XiangFuZi' in China, XFZ), closely related Cyperaceae species, exhibit significant differences in triacylglycerol (TAG) accumulation within their tubers, a key factor in carbon flux repartitioning that highly impact the total lipid, carbohydrate and protein metabolisms. Previous studies have attempted to elucidate the carbon anabolic discrepancies between these two species, however, a lack of comprehensive genome-wide annotation has hindered a detailed understanding of the underlying molecular mechanisms.
Results: This study utilizes transcriptomic analyses, supported by a comprehensive YSD reference genome, and metabolomic profiling to uncover the mechanisms underlying the major carbon perturbations between the developing tubers of YSD and XFZ germplasms harvested in Yunnan province, China, where the plant biodiveristy is renowned worldwide and may contain more genetic variations relative to their counterparts in other places.
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