journal cover

Population genetics of rare variants and complex diseases

Human Heredity

Jan 1, 2012

M Cyrus MaherRyan D Hernandez

Abstract

Identifying drivers of complex traits from the noisy signals of genetic variation obtained from high-throughput genome sequencing technologies is a central challenge faced by human geneticists today. We hypothesize that the variants involved in complex diseases are likely to exhibit non...read more

Mentioned in this Paper

Genome-Wide Association Study
In Silico
Genetics, Population
Sequencing
Alleles
Genetic Predisposition to Disease
Genome Sequencing
Online Mendelian Inheritance In Man
Selection, Genetic
EAF2 gene
5
105
1
Paper Details
References
  • References
  • Citations21
  • finger pointing at paper

    References currently unavailable

    We're still populating references for this paper, please check back later.
  • References
  • Citations21
123

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Human Vascular Endothelial Cell Atlas: Young & Old

Examining the genomics, transcriptomics, proteomics and metabolomics of the human vascular endothelial cells at the single cell level will help build a single cell atlas of human vascular endothelium, which would give a unique ID card for each cell type, a three-dimensional map of how cell types work together to form tissues and insights into how changes in the map underlie health and disease of the vascular endothelium from young to old age. Disocver the latest research on the single cell atlas of human vascular endothelial cell atlas here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Myocardial Stunning

Myocardial stunning is a mechanical dysfunction that persists after reperfusion of previously ischemic tissue in the absence of irreversible damage including myocardial necrosis. Here is the latest research.

LRRK2 and Microtubules

Mutations in the LRRK2 gene are risk-factors for developing Parkinson’s disease (PD). LRRK2 mutations in PD have been shown to enhance its association with microtubules. Here is the latest research.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Asperger Syndrome

Asperger syndrome (AS), also known as Asperger's, is a developmental disorder characterized by significant difficulties in social interaction and nonverbal communication, along with restricted and repetitive patterns of behavior and interests. Discover the latest research on Asperger syndrome here.

Mechanisms of Axon Degeneration

The mechanism of axonal degeneration is still poorly understood, but studies in animal models have suggested some cellular and molecular mechanisms responsible. The degeneration of axons in the CNS has been found to be characteristic of many neurodegenerative diseases. Discover the latest research on the mechanisms of axon degeneration here.

Coccidioidomycosis

Coccidioidomycosis is a fungal disease caused by Coccidioides immitis and Coccidioides posadasii. Symptoms include fever, cough and coin lesions. Discover the latest research on Coccidioidomycosis here.

Related Papers

Proceedings of the National Academy of Sciences of the United States of America

Distribution of allele frequencies and effect sizes and their interrelationships for common genetic susceptibility variants

Proceedings of the National Academy of Sciences of the United States of AmericaOctober 18, 2011
Ju-Hyun ParkNilanjan Chatterjee
© 2020 Meta ULC. All rights reserved

Population genetics of rare variants and complex diseases

Human Heredity

Jan 1, 2012

M Cyrus MaherRyan D Hernandez

PMID: 23594490

DOI: 10.1159/000346826

Abstract

Identifying drivers of complex traits from the noisy signals of genetic variation obtained from high-throughput genome sequencing technologies is a central challenge faced by human geneticists today. We hypothesize that the variants involved in complex diseases are likely to exhibit non...read more

Mentioned in this Paper

Genome-Wide Association Study
In Silico
Genetics, Population
Sequencing
Alleles
Genetic Predisposition to Disease
Genome Sequencing
Online Mendelian Inheritance In Man
Selection, Genetic
EAF2 gene
5
105
1

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Human Vascular Endothelial Cell Atlas: Young & Old

Examining the genomics, transcriptomics, proteomics and metabolomics of the human vascular endothelial cells at the single cell level will help build a single cell atlas of human vascular endothelium, which would give a unique ID card for each cell type, a three-dimensional map of how cell types work together to form tissues and insights into how changes in the map underlie health and disease of the vascular endothelium from young to old age. Disocver the latest research on the single cell atlas of human vascular endothelial cell atlas here.

Related Papers

Proceedings of the National Academy of Sciences of the United States of America

Distribution of allele frequencies and effect sizes and their interrelationships for common genetic susceptibility variants

Proceedings of the National Academy of Sciences of the United States of AmericaOctober 18, 2011
Ju-Hyun ParkNilanjan Chatterjee
Paper Details
References
  • References
  • Citations21
  • finger pointing at paper

    References currently unavailable

    We're still populating references for this paper, please check back later.
  • References
  • Citations21
123

Download from

Publisher
PubMed
/papers/population-genetics-of-rare-variants-and-complex/23594490