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Association testing of clustered rare causal variants in case-control studies

PloS One

Apr 17, 2014

Wan-Yu Lin

Abstract

Biological evidence suggests that multiple causal variants in a gene may cluster physically. Variants within the same protein functional domain or gene regulatory element would locate in close proximity on the DNA sequence. However, spatial information of variants is usually not used in...read more

Mentioned in this Paper

Genome
Dysequilibrium Syndrome
Genomics
Hyperlipidemia
Child Development Disorders, Pervasive
Genes, vif
Chromosomes
Nested Case-Control Studies
Angiopoietins
ANGPTL4 protein, human
Paper Details
References
  • References37
  • Citations15
1234
  • References37
  • Citations15
12

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Association testing of clustered rare causal variants in case-control studies

PloS One

Apr 17, 2014

Wan-Yu Lin

PMID: 24736372

DOI: 10.1371/journal.pone.0094337

Abstract

Biological evidence suggests that multiple causal variants in a gene may cluster physically. Variants within the same protein functional domain or gene regulatory element would locate in close proximity on the DNA sequence. However, spatial information of variants is usually not used in...read more

Mentioned in this Paper

Genome
Dysequilibrium Syndrome
Genomics
Hyperlipidemia
Child Development Disorders, Pervasive
Genes, vif
Chromosomes
Nested Case-Control Studies
Angiopoietins
ANGPTL4 protein, human

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Pervasive Developmental Disorder

Pervasive developmental disorders (PDDs) including autistic disorder, Asperger’s, and PDD not otherwise specified, are neurodevelopmental disorders of childhood onset. Discover the latest research on pervasive developmental disorders here.

Structural Biology: Biophysics

Structural Biology: Biophysics describes the study of structural biology using various biophysical techiniques such as imaging, computational modeling, etc. Discover the latest research on structrual biology here.

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American Journal of Human Genetics

A permutation procedure to correct for confounders in case-control studies, including tests of rare variation

American Journal of Human GeneticsJuly 24, 2012
Michael P EpsteinGlen A Satten
Paper Details
References
  • References37
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12
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