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Genetic and clinical landscape of ER + /PR- breast cancer in China
BackgroundEstrogen receptor-positive and progesterone receptor-negative (ER + /PR-) breast cancer comprise a special type. More than 10% breast...
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Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss
BackgroundThe American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) guidelines recommend using variant...
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Genetic Evolution of Hepatitis E Virus
Comparative analysis of the genomic sequences of multiple hepatitis E virus (HEV) isolates has revealed extensive genomic diversity among them....
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Genetic diversity of Toxoplasma gondii in South America: occurrence, immunity, and fate of infection
Toxoplasma gondii is an intracellular parasite with a worldwide distribution. Toxoplasma gondii infections are of great concern for public health,...
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Divergence and introgression in small apes, the genus Hylobates, revealed by reduced representation sequencing
Gibbons of the genus Hylobates , which inhabit Southeast Asia, show great diversity and comprise seven to nine species. Natural hybridisation has been...
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Targeted sequencing of high-density SNPs provides an enhanced tool for forensic applications and genetic landscape exploration in Chinese Korean ethnic group
BackgroundIn this study, we present a NGS-based panel designed for sequencing 1993 SNP loci for forensic DNA investigation. This panel addresses...
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Genetic Variability of the Laxmann’s Shrew (Sorex caecutiens Laxmann, 1788) of the Kolyma River Basin and Chukotka
AbstractNucleotide sequence polymorphism and haplotypic diversity of the cytochrome b gene were studied in samples of the Laxmann’s Shrew subspecies-
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Discrimination of cell-intrinsic and environment-dependent effects of natural genetic variation on Kupffer cell epigenomes and transcriptomes
Noncoding genetic variation drives phenotypic diversity, but underlying mechanisms and affected cell types are incompletely understood. Here,...
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The genetic variability of grapevine Pinot gris virus (GPGV) in Australia
Grapevine Pinot gris virus (GPGV; genus Trichovirus in the family Betaflexiviridae ) was detected in Australia in 2016, but its impact on the...
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Microsatellite markers for Opisthorchis felineus to understand its genetic diversity and transmission patterns of opisthorchiosis
Opisthorchis felineus is a food-borne trematode which causes opisthorchiosis and affects mainly the liver and bile ducts of the liver with a possible...
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Foot-and-mouth disease virus strains isolated in Vietnam during 2010-2019: genetic characterization and antigenic relatedness to the Euro SA vaccine
Foot-and-mouth disease is a highly contagious disease that affects cloven-hoofed animals. It has an important socio-economic impact on the livestock...
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Genetic Studies of Sarcoptes scabiei: New Tools for Old Questions
The scabies mite, Sarcoptes scabiei, has long been reputed a “diverse” parasite, substructured in an indefinite number of host-related varieties. In...
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Genetic diversity of rotavirus A in Argentina during 2019-2022: detection of G6 strains and insights regarding its dissemination
One of the challenges associated with introducing a vaccine is monitoring its impact through clinical and molecular surveillance. The aims of this...
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Human–chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution
Gene regulatory divergence is thought to play a central role in determining human-specific traits. However, our ability to link divergent regulation...
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Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction
Restless legs syndrome (RLS) affects up to 10% of older adults. Their healthcare is impeded by delayed diagnosis and insufficient treatment. To...
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APOE4 homozygosity represents a distinct genetic form of Alzheimer’s disease
This study aimed to evaluate the impact of APOE4 homozygosity on Alzheimer’s disease (AD) by examining its clinical, pathological and biomarker...
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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments....
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Genetic basis and spatial distribution of glucose-6-phosphate dehydrogenase deficiency in ecuadorian ethnic groups: a malaria perspective
BackgroundGlucose-6-phosphate dehydrogenase deficiency (G6PDd) is an X-linked disorder affecting over 400 million people worldwide. Individuals with...
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Analysis of gene expression in the postmortem brain of neurotypical Black Americans reveals contributions of genetic ancestry
Ancestral differences in genomic variation affect the regulation of gene expression; however, most gene expression studies have been limited to...
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Genetic Diversity of Four Populations of Silver Carp (Hypophthalmichthys molitrix) Based on Mitochondrial Sequences
Three mitochondrial DNA sequences ( COI , ATP 8&6 , and D-loop) were employed to assess the genetic diversity of four populations of silver carp from...
