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Impacts of ABCG2 loss of function variant (p. Gln141Lys, c.421 C > A, rs2231142) on lipid levels and statin efficiency: a systematic review and meta-analysis
BackgroundThe latest evidence indicates that ATP-binding cassette superfamily G member 2 (ABCG2) is critical in regulating lipid metabolism and...
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A naturally occurring variant of SHLP2 is a protective factor in Parkinson’s disease
Mitochondrial DNA single nucleotide polymorphisms (mtSNPs) have been associated with a reduced risk of develo** Parkinson’s disease (PD), yet the...
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Fast, accurate, and racially unbiased pan-cancer tumor-only variant calling with tabular machine learning
Accurately identifying somatic mutations is essential for precision oncology and crucial for calculating tumor-mutational burden (TMB), an important...
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Germline rare deleterious variant load alters cancer risk, age of onset and tumor characteristics
Recent studies show that rare, deleterious variants (RDVs) in certain genes are critical determinants of heritable cancer risk. To more...
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High-resolution structural variant profiling of myelodysplastic syndromes by optical genome map** uncovers cryptic aberrations of prognostic and therapeutic significance
Chromosome banding analysis (CBA) remains the standard-of-care for structural variant (SV) assessment in MDS. Optical genome map** (OGM) is a...
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A HUWE1 defect causes PARP inhibitor resistance by modulating the BRCA1-∆11q splice variant
Although PARP inhibitors (PARPi) now form part of the standard-of-care for the treatment of homologous recombination defective cancers, de novo and...
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Detection of enterovirus RNA in peripheral blood mononuclear cells correlates with the presence of the predisposing allele of the type 1 diabetes risk gene IFIH1 and with disease stage
Aims/hypothesisEnteroviral infection has been implicated consistently as a key environmental factor correlating with the appearance of autoimmunity...
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A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene
BackgroundGNAS is a complex gene that encodes Gsα, a signaling protein that triggers a complex network of pathways. Heterozygous inactivating...
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The schizophrenia-associated variant in SLC39A8 alters protein glycosylation in the mouse brain
A missense mutation (A391T) in SLC39A8 is strongly associated with schizophrenia in genomic studies, though the molecular connection to the brain is...
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RANKL inhibition reduces lesional cellularity and Gαs variant expression and enables osteogenic maturation in fibrous dysplasia
Fibrous dysplasia (FD) is a rare, disabling skeletal disease for which there are no established treatments. Growing evidence supports inhibiting the...
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Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis
BackgroundCommonly clinically diagnosed with relapsing polychondritis (RP), vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS)...
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Prevalence of pathogenic germline variants in the circulating tumor DNA testing
BackgroundSomatic and germline variants are not distinguishable by circulating tumor DNA (ctDNA) testing without analyzing non-tumor samples....
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A Conformational Variant of p53 (U-p53AZ) as Blood-Based Biomarker for the Prediction of the Onset of Symptomatic Alzheimer’s Disease
BackgroundOngoing research seeks to identify blood-based biomarkers able to predict onset and progression of Alzheimer’s disease (AD).
...
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Identification and characterization of the long non-coding RNA NFIA-AS2 as a novel locus for body mass index in American Indians
BackgroundGenome-wide association studies have shown that body mass index (BMI), an estimate of obesity, is highly polygenic. Individual variants...
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Deriving tumor purity from cancer next generation sequencing data: applications for quantitative ERBB2 (HER2) copy number analysis and germline inference of BRCA1 and BRCA2 mutations
Tumor purity, or the relative contribution of tumor cells out of all cells in a pathological specimen, influences mutation identification and...
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Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling
BackgroundOptic atrophy-13 with retinal and foveal abnormalities (OPA13) (MIM #165510) is a mitochondrial disease in which apparent bilateral optic...
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Compartment-specific mutational landscape of clonal hematopoiesis
Clonal hematopoiesis (CH) is characterized by somatic mutations in blood cells of individuals without hematologic disease. While the mutational...
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Clonal evolution in liver cancer at single-cell and single-variant resolution
Genetic heterogeneity of tumor is closely related to its clonal evolution, phenotypic diversity and treatment resistance, and such heterogeneity has...
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Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder
Bipolar disorder (BD) is a global medical issue, afflicting around 1% of the population with manic and depressive episodes. Despite various genetic...
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Quantification of cerebrospinal fluid tumor DNA in lung cancer patients with suspected leptomeningeal carcinomatosis
Cerebrospinal fluid tumor-derived DNA (CSF-tDNA) analysis is a promising approach for monitoring the neoplastic processes of the central nervous...
