Genome-wide association studies (GWAS) identify genetic variants that distinguish a control population from a population with a specific trait. Two challenges in GWAS are: (1) identification of the causal variant within a longer haplotype that is associated with the trait; (2) identification of causal variants for polygenic traits that are caused by variants in multiple genes within a pathway. We review recent methods that use information in protein-protein and protein-DNA interaction networks to address these two challenges.
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http://dx.doi.org/10.1016/j.gde.2013.09.003 | DOI Listing |
BMC Med Genomics
January 2025
Department of Surgery, Faculty of General of Medicine, Koya University, Koya, Kurdistan Region - F.R., KOY45, Iraq.
Background: During mammalian spermatogenesis, the cytoskeleton system plays a significant role in morphological changes. Male infertility such as non-obstructive azoospermia (NOA) might be explained by studies of the cytoskeletal system during spermatogenesis.
Methods: The cytoskeleton, scaffold, and actin-binding genes were analyzed by microarray and bioinformatics (771 spermatogenic cellsgenes and 774 Sertoli cell genes).
BMC Genomics
January 2025
Key Laboratory of Qinghai-Tibetan Plateau Animal Genetic Resource Reservation and Utilization, Sichuan Province and Ministry of Education, Southwest Minzu University, Chengdu, 610225, China.
Background: Microsatellites are highly polymorphic repeat sequences ubiquitously interspersed throughout almost all genomes which are widely used as powerful molecular markers in diverse fields. Microsatellite expansions play pivotal roles in gene expression regulation and are implicated in various neurological diseases and cancers. Although much effort has been devoted to developing efficient tools for microsatellite identification, there is still a lack of a powerful tool for large-scale microsatellite analysis.
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January 2025
Henan Collaborative Innovation Center of Modern Biological Breeding, College of Agronomy, Henan Institute of Science and Technology, Xinxiang, 453003, China.
Background: The Sec14 domain is an ancient lipid-binding domain that evolved from yeast Sec14p and performs complex lipid-mediated regulatory functions in subcellular organelles and intracellular traffic. The Sec14 family is characterized by a highly conserved Sec14 domain, and is ubiquitously expressed in all eukaryotic cells and has diverse functions. However, the number and characteristics of Sec14 homologous genes in soybean, as well as their potential roles, remain understudied.
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January 2025
Division of Cardiology, Department of Internal Medicine, Faculty of Medicine, Chiang Mai University, Chiang Mai, 50200, Thailand.
Pocket hematoma is a common and serious complication following cardiac implantable electronic device (CIED) implantation, contributing to significant morbidity and mortality. This study aimed to evaluate the efficacy of a novel pocket compression device in reducing pocket hematoma occurrence. We enrolled 242 patients undergoing CIED implantation, randomly assigning them to receive either the novel compression vest with a pressure cuff or conventional sandbag compression.
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January 2025
Department of Hematology and Oncology, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatric Metabolism and Inflammatory Diseases, Children's Hospital of Chongqing Medical University, No 136 Zhongshan 2 road, YuZhong district, Chongqing, 400014, China.
Genetic alterations play a pivotal role in leukemic clonal transformation, significantly influencing disease pathogenesis and clinical outcomes. Here, we report a novel fusion gene and investigate its pathogenic role in acute lymphoblastic leukemia (ALL). We engineer a transposon transfection system expressing the TOP2B::AFF2 transcript and introduce it into Ba/F3 cells.
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