human-genetics

Documents about human-genetics

• Human Mutation/substitution Rate: Variability, Modeling And Applications#648092ScholarlyCommons at Penn
• Aberrant segregation in human populations#497520ScholarSpace
• Ultrafast and memory-efficient alignment of short DNA sequences to the human genome#6725OpenAlex
• Genetics of hypertension in populations affected by the Aral Sea ecological crisis: A case-control study#345378PLOS
• Mechanisms of genetic variation underlying neurodevelopmental disorder phenotypes in the human cortex#651665eScholarship
• Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics#955683Koc University Digital Collections
• MEGA7: Molecular Evolutionary Genetics Analysis Version 7.0 for Bigger Datasets#6711OpenAlex
• MEGA2: molecular evolutionary genetics analysis software#6229OpenAlex
• Genotype to phenotype analysis on the scale of millions of human genomes#121543OSF
• Local genetic correlations between systemic sclerosis and common cancer types#232914PLOS
• Using deep learning to identify inherited retinal diseases based on wide-field retinal imaging data#172200PLOS
• Genetics in human behavior (disorders): Concepts, misconceptions, and a resistance-based path to translation#228461OSF
• An integrated encyclopedia of DNA elements in the human genome#6377OpenAlex
• Insights Into Aboriginal Australian Mortuary Practices: Perspectives From Ancient DNA#167723Apollo
• From Wikipedia to AI: Measuring 25 years of synthesis of human genetics research in the public-facing information ecosystem#633105bioRxiv / medRxiv
• TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions#6783OpenAlex
• Rare diseases in children—Knowledge, experiences and challenges faced by pediatricians in Tanzania#180474PLOS
• Towards a European health research and innovation cloud (HRIC)#340962OpenAlex
• Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis#955580Koc University Digital Collections
• (Post) human flourishing : neo-Aristotelian natural rights and the challenge to human nature#405524Figshare
• Narrativization of human population genetics: Two cases in Iceland and Russia#114576PhilArchive
• Evidence for strong purifying selection of human 47S ribosomal RNA genes#133203bioRxiv / medRxiv
• A map of human genome variation from population-scale sequencing#7211OpenAlex
• A portable recalibration workflow for reference-based variant calling in non-human genomes#473117PLOS
• Common genetic variants influence human subcortical brain structures#675861eScholarship
• A Complete Diploid Human Genome Benchmark for Personalized Genomics#1001628ODU Digital Commons
• Deep Learning for Enhanced 3D Landmark Positioning: Addressing Biases in Traditional Registration Methods#190603Springer Nature OA
• Targeted sequencing provides genetic insights into familial cardiovascular disease among young adults in a high consanguinity population#453128PLOS
• Coordinated dysregulation of modular gene activity in human neuropathologies#651675eScholarship
• Genetics of the Leading Causes of Death in Human Aging#259256bioRxiv / medRxiv
• The Spatial Landscape of Extracellular Matrix Gene Expression in Healthy and Type 2 Diabetic Human Pancreas#651667eScholarship
• Metagenomic biomarker discovery and explanation#6742OpenAlex
• Cascade counselling and testing. Recommendations of the European Society of Human Genetics#153597HAL (France)
• The time window before biological AI spreads#379332Springer Nature OA
• Abstracts of the ERICA ERN research conference#410187Springer Nature OA
• CD36 and Human Fat Taste Perception#830696ClinicalTrials.gov
• Genetic Analysis of Uncommon Disease Presentations in Non-US Populations#904149ClinicalTrials.gov
• Human placental cytotrophoblast epigenome dynamics over gestation and alterations in placental disease#619842eScholarship
• Age of Genetics and the age of biotechnology on the way to editing of, human genome#710523PhilArchive
• African Courts, International Law, and Comparative Case Law: Chimera or Emerging Human Rights Jurisprudence?#469577OpenAlex
• Genetic variants in the leptin-melanocortin pathway and their joint effects with physical activity and sleep duration on risk of childhood obesity#187820PLOS
• Greengenes2 unifies microbial data in a single reference tree#780567eScholarship
• Human and mouse essentiality screens as a resource for disease gene discovery#492120eScholarship
• Identifying DNA mutations in <i>Sepia</i>, <i>White</i>, <i>Yellow</i>, and <i>Vestigial</i> genes in <i>D. melanogaster</i> - Integrating inquiry-based experiential learning into undergraduate Genetics Laboratory curriculum#631429PLOS
• ADVANTAGE: Advanced discovery of visceral analgesics by neuroimmune targets and the genetics of extreme human phenotype, a study protocol#215728PLOS
• Non-specific filtering of beta-distributed data#620028eScholarship
• Heterologous expression of the human cohesin complex in Saccharomyces cerevisiae results in a dominant-negative phenotype#158265bioRxiv / medRxiv
• Model-based Analysis of ChIP-Seq (MACS)#6733OpenAlex
• A method and server for predicting damaging missense mutations#6787OpenAlex
• The STING HAQ haplotype and clinical non-penetrance in COPA syndrome#153854HAL (France)

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