Rare variant association test with multiple phenotypes
Sign Up to like & getrecommendations! Published in 2017 at "Genetic Epidemiology"
DOI: 10.1002/gepi.22021
Abstract: Although genome‐wide association studies (GWAS) have now discovered thousands of genetic variants associated with common traits, such variants cannot explain the large degree of “missing heritability,” likely due to rare variants. The advent of next… read more here.
Keywords: multiple phenotypes; association test; association; rare variants ... See more keywords
Rare‐variant association tests in longitudinal studies, with an application to the Multi‐Ethnic Study of Atherosclerosis (MESA)
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DOI: 10.1002/gepi.22081
Abstract: Over the past few years, an increasing number of studies have identified rare variants that contribute to trait heritability. Due to the extreme rarity of some individual variants, gene‐based association tests have been proposed to… read more here.
Keywords: longitudinal studies; study; association; association tests ... See more keywords
On the substructure controls in rare variant analysis: Principal components or variance components?
Sign Up to like & getrecommendations! Published in 2018 at "Genetic Epidemiology"
DOI: 10.1002/gepi.22102
Abstract: Recent studies showed that population substructure (PS) can have more complex impact on rare variant tests and that similarity‐based collapsing tests (e.g., SKAT) may suffer more severely by PS than burden‐based tests. In this work,… read more here.
Keywords: variance components; substructure; principal components; rare variant ... See more keywords
Rare variant association testing for multicategory phenotype
Sign Up to like & getrecommendations! Published in 2019 at "Genetic Epidemiology"
DOI: 10.1002/gepi.22210
Abstract: Genetic association studies have provided new insights into the genetic variability of human complex traits with a focus mainly on continuous or binary traits. Methods have been proposed to take into account disease heterogeneity between… read more here.
Keywords: association testing; association; burden tests; rare variants ... See more keywords
Integrating external controls in case–control studies improves power for rare‐variant tests
Sign Up to like & getrecommendations! Published in 2022 at "Genetic Epidemiology"
DOI: 10.1002/gepi.22444
Abstract: Large‐scale sequencing and genotyping data provide an opportunity to integrate external samples as controls to improve power of association tests. However, due to the systematic differences between genotyped samples from different studies, naively aggregating the… read more here.
Keywords: rare variant; power; external controls; variant ... See more keywords
RAVAQ: An integrative pipeline from quality control to region-based rare variant association analysis.
Sign Up to like & getrecommendations! Published in 2022 at "Genetic epidemiology"
DOI: 10.1002/gepi.22450
Abstract: Next-generation sequencing technologies have opened up the possibility to sequence large samples of cases and controls to test for association with rare variants. To limit cost and increase sample sizes, data from controls could be… read more here.
Keywords: variant association; quality; rare variant; quality control ... See more keywords
Lymphoepithelioma‐Like Carcinomas: A Rare Variant of Cholangiocarcinoma
Sign Up to like & getrecommendations! Published in 2020 at "Hepatology"
DOI: 10.1002/hep.31102
Abstract: Lymphoepithelioma-like carcinomas (LELCs) are malignancies that appear histologically as undifferentiated epithelial cells accompanied by lymphoid response (1). LELCs have been described in a variety of organs including the liver, can present with hepatocellular or cholangiocarcinoma… read more here.
Keywords: carcinomas rare; cholangiocarcinoma; lymphoepithelioma like; like carcinomas ... See more keywords
Burden of rare variants in ALS genes influences survival in familial and sporadic ALS
Sign Up to like & getrecommendations! Published in 2017 at "Neurobiology of Aging"
DOI: 10.1016/j.neurobiolaging.2017.06.007
Abstract: Genetic variants are implicated in the development of amyotrophic lateral sclerosis (ALS), but it is unclear whether the burden of rare variants in ALS genes has an effect on survival. We performed whole genome sequencing… read more here.
Keywords: als genes; burden rare; variants als; sporadic als ... See more keywords
Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Human Genetics"
DOI: 10.1038/ejhg.2017.61
Abstract: The classic epileptic encephalopathies, including infantile spasms (IS) and Lennox–Gastaut syndrome (LGS), are severe seizure disorders that usually arise sporadically. De novo variants in genes mainly encoding ion channel and synaptic proteins have been found… read more here.
Keywords: epileptic encephalopathy; variant transmission; transmission; transmission disequilibrium ... See more keywords
Erratum: Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Psychiatry"
DOI: 10.1038/mp.2017.214
Abstract: This corrects the article DOI: 10.1038/mp.2016.97 read more here.
Keywords: genome wide; wide common; variant analysis; common rare ... See more keywords
The exhaustive genomic scan approach, with an application to rare-variant association analysis
Sign Up to like & getrecommendations! Published in 2020 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-020-0639-3
Abstract: Region-based genome-wide scans are usually performed by use of a priori chosen analysis regions. Such an approach will likely miss the region comprising the strongest signal and, thus, may result in increased type II error… read more here.
Keywords: variant association; rare variant; analysis; scan approach ... See more keywords