human-genetics

Documents about human-genetics

• Suitability of Some Data Quality Controls Thresholds for Genetic Association Studies of Admixed Population#871240ClinicalTrials.gov
• Genomic and Ecological Flexibility Shape the Global Distribution of a Black Fungus#620156eScholarship
• High-quality draft genome sequence of Rhizobium mesoamericanum strain STM6155, a Mimosa pudica microsymbiont from New Caledonia#624283eScholarship
• The genome assemblies of the Tui chub, Siphateles bicolor, and Arroyo chub, Gila orcuttii#634712eScholarship
• BAHCC1 binds H3K27me3 via a conserved BAH module to mediate gene silencing and oncogenesis#683895eScholarship
• Reference genome of the Virginia rail, Rallus limicola#683984eScholarship
• A genome assembly of the speckled dace, Rhinichthys osculus#780515eScholarship
• A scaling normalization method for differential expression analysis of RNA-seq data#7201OpenAlex
• A chimeric human-mouse lung vascular model using induced pluripotent stem cells reveals insights into the pathogenesis of BMPR2-related pulmonary hypertension#243505bioRxiv / medRxiv
• Morality Meets Machine: How Evaluator and Agent Gender Shape Human-AI Moral Judgment#273678Figshare
• Mapping factors associated with emotional and behavioral problems among preschool children: A scoping review protocol#372092PLOS
• Identification of genetic factors that modify motor performance and body weight using Collaborative Cross mice#612122eScholarship
• Multimodal Spatial Transcriptomics Reveals the Developing Human Liver Niche at Single-Cell Resolution#612182eScholarship
• Identification of genetic elements in metabolism by high-throughput mouse phenotyping#614596eScholarship
• Analysis of 1,000+ Type-Strain Genomes Substantially Improves Taxonomic Classification of Alphaproteobacteria#609390eScholarship
• High-quality draft genome sequence of Gracilimonas tropica CL-CB462T (DSM 19535T), isolated from a Synechococcus culture#611971eScholarship
• High-throughput mapping of spontaneous mitotic crossover and genome instability events with sci-L3-Strand-seq#612290eScholarship
• A missense mutation in the KCNE4 gene is not predictive of equine anhidrosis#675955eScholarship
• Consistent MRI pattern in ADSS1 myopathy with variable clinical presentations: A Korean cohort study#10231PLOS
• HIV-1 genetic diversity and reverse transcriptase resistance mutations in Benin before dolutegravir era, West Africa#214332PLOS
• SAMD4 represses VGLL4 mRNA to activate TEAD and promote cancer progression#237335Springer Nature OA
• A minimally invasive lab protocol for fibroblasts isolation from 1-mm skin punch biopsies in pediatric patients#302051PLOS
• Genome Heroes - Genetic Mutation#344069Figshare
• Incorporating husband’s influence in estimating unmet need for contraception using modified revised algorithm#626376PLOS
• Investigating the effects of TSC1 mutations across the neurodegenerative spectrum: Insights from cortical organoids and human brains#651694eScholarship
• Comparative genomics of Coniophora olivacea reveals different patterns of genome expansion in Boletales#492007eScholarship
• Universal chromatin state annotation of the mouse genome#609414eScholarship
• Comparative genomics of Mortierella elongata and its bacterial endosymbiont Mycoavidus cysteinexigens#614803eScholarship
• A CRISPR-Cas9–integrase complex generates precise DNA fragments for genome integration#619864eScholarship
• Efficient and accurate determination of genome-wide DNA methylation patterns in Arabidopsis thaliana with enzymatic methyl sequencing#619940eScholarship
• High-quality permanent draft genome sequence of Bradyrhizobium sp. strain WSM1743 - an effective microsymbiont of an Indigofera sp. growing in Australia#624363eScholarship
• Sherlock: Detecting Gene-Disease Associations by Matching Patterns of Expression QTL and GWAS#675982eScholarship
• Thousands of small, novel genes predicted in global phage genomes#784280eScholarship
• Role of SCAP in regulation of pancreatic homeostasis, pancreatitis, and tumorigenesis#212324Springer Nature OA
• Genome-Wide Association Study of Quantitative Kidney Function in 52,531 Individuals with Diabetes Identifies Five Diabetes-Specific Loci#304659HAL (France)
• Transcriptomic profiling identifies immunotherapy-responsive phenotypes in microsatellite-stable metastatic colorectal cancer#365612Springer Nature OA
• Sequence-specific DNA binding by MYC/MAX to low-affinity non-E-box motifs#491778eScholarship
• An optimized library for reference-based deconvolution of whole-blood biospecimens assayed using the Illumina HumanMethylationEPIC BeadArray#492061eScholarship
• Genome sequence of Bradyrhizobium sp. WSM1253; a microsymbiont of Ornithopus compressus from the Greek Island of Sifnos#612091eScholarship
• Gene and genome duplications have contrasting impacts on biosynthetic and flower developmental pathways in California poppy#612208eScholarship
• Ten-year natural history of visual function in Japanese patients with Leber hereditary optic neuropathy: A retrospective cohort study#141248PLOS
• Characterization of DEFA1A3 gene expression in human blood cells#466529University of Nottingham Repository
• Investigating the roles of human RNaseH2 in response to oncogene- and chemotherapy-induced replication stress#824345UBIRA ETheses
• Tn5Prime, a Tn5 based 5′ capture method for single cell RNA-seq#492108eScholarship
• Structural characterization and evolutionary analyses of the Coccidioides immitis and Coccidioides posadasii mitochondrial genomes#619946eScholarship
• Analysis of molecular variance inferred from metric distances among DNA haplotypes: application to human mitochondrial DNA restriction data.#6775OpenAlex
• Epigenetic and metabolic rewiring in metastatic pheochromocytomas and paragangliomas driven by SDHB mutations#237773Zenodo (CERN)
• Cannabinoid CB_2 receptor drives trastuzumab resistance and predicts durable anti-HER2 response#299084Springer Nature OA
• A clinical pilot study for personalized risk-based breast cancer screening utilizing a polygenic risk score#351917PLOS
• Understanding the Genetic Basis of extreme levels of High and Low LDL- Cholesterol in African Populations#673199WIReDSpace