Results 51 to 60 of about 825,099 (241)
Detection boundary and Higher Criticism approach for rare and weak genetic effects [PDF]
Annals of Applied Statistics 2014, Vol. 8, No. 2, 824-851, 2014 Genome-wide association studies (GWAS) have identified many genetic factors underlying complex human traits. However, these factors have explained only a small fraction of these traits' genetic heritability. It is argued that many more genetic factors remain undiscovered.
arxiv +1 more source
Human Genetics to Identify Therapeutic Targets for NAFLD: Challenges and Opportunities
Frontiers in Endocrinology, 2021 Non-alcoholic fatty liver disease (NAFLD) is a continuous progression of pathophysiologic stages that is challenging to diagnose due to its inherent heterogeneity and poor standardization across a wide variety of diagnostic measures.
Xiaomi Du +4 more
doaj +1 more source
Flanking heterozygosity influences the relative probability of different base substitutions in humans [PDF]
Royal Society Open Science, 2019 Understanding when, where and which mutations are mostly likely to occur impacts many areas of evolutionary biology, from genetic diseases to phylogenetic reconstruction.
William Amos
doaj +1 more source
Routes for breaching and protecting genetic privacy [PDF]
arXiv, 2013 We are entering the era of ubiquitous genetic information for research, clinical care, and personal curiosity. Sharing these datasets is vital for rapid progress in understanding the genetic basis of human diseases. However, one growing concern is the ability to protect the genetic privacy of the data originators.
arxiv
A genome-wide survey of genetic variation in gorillas using reduced representation sequencing [PDF]
, 2013 All non-human great apes are endangered in the wild, and it is therefore important to gain an understanding of their demography and genetic diversity. To date, however, genetic studies within these species have largely been confined to mitochondrial DNA and a small number of other loci.
arxiv +1 more source
iScience, 2022 Summary: Homozygous familial hypercholesterolemia (HoFH) is an extremely rare metabolism disorder usually caused by low-density lipoprotein receptor (LDLR) mutations.
Zhiyong Du +8 more
doaj
Proteomic profiling of the plasma of Gambian children with cerebral malaria
Malaria Journal, 2018 Background Cerebral malaria (CM) is a severe neurological complication of Plasmodium falciparum infection. A number of pathological findings have been correlated with pediatric CM including sequestration, platelet accumulation, petechial haemorrhage and ...
Ehab M. Moussa +10 more
doaj +1 more source
A Spectral Graph Approach to Discovering Genetic Ancestry [PDF]
Annals of Applied Statistics, 4(1), 179-201, 2010, 2009 Mapping human genetic variation is fundamentally interesting in fields such as anthropology and forensic inference. At the same time patterns of genetic diversity confound efforts to determine the genetic basis of complex disease. Due to technological advances it is now possible to measure hundreds of thousands of genetic variants per individual across
arxiv
Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes
iScience, 2023 Summary: Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disease characterized by severe and childhood onset organ-specific autoimmunity caused by mutations in the autoimmune regulator (AIRE) gene.
Bergithe E. Oftedal +24 more
doaj