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Rare-Variant Association Analysis: Study Designs and Statistical Tests

American journal of human genetics, 2014-07, Vol.95 (1), p.5-23

2014

Volltextzugriff (PDF)

RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data

Bioinformatics, 2016-05, Vol.32 (9), p.1423-1426

2016

Volltextzugriff (PDF)

LocusZoom.js: interactive and embeddable visualization of genetic association study results

Bioinformatics (Oxford, England), 2021-09, Vol.37 (18), p.3017-3018

2021

Volltextzugriff (PDF)

Reference-based phasing using the Haplotype Reference Consortium panel

Nature genetics, 2016-11, Vol.48 (11), p.1443-1448

2016

Volltextzugriff (PDF)

Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies

Nature genetics, 2018-09, Vol.50 (9), p.1335-1341

2018

Volltextzugriff (PDF)

Exome sequencing and complex disease: practical aspects of rare variant association studies

Human molecular genetics, 2012-10, Vol.21 (R1), p.R1-R9

2012

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Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies

Nature genetics, 2006-02, Vol.38 (2), p.209-213

2006

Volltextzugriff (PDF)

Analysis of long non-coding RNAs highlights tissue-specific expression patterns and epigenetic profiles in normal and psoriatic skin

Genome Biology, 2015-01, Vol.16 (1), p.24-24, Article 24

2015

Volltextzugriff (PDF)

PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data

Bioinformatics, 2005-08, Vol.21 (16), p.3445-3447

2005

Volltextzugriff (PDF)

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

Nature communications, 2018-10, Vol.9 (1), p.4038-8, Article 4038

2018

Volltextzugriff (PDF)

Correcting for Sample Contamination in Genotype Calling of DNA Sequence Data

American journal of human genetics, 2015-08, Vol.97 (2), p.284-290

2015

Volltextzugriff (PDF)

CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration

Nature genetics, 2006-09, Vol.38 (9), p.1049-1054

2006

Volltextzugriff (PDF)

Unified representation of genetic variants

Bioinformatics, 2015-07, Vol.31 (13), p.2202-2204

2015

Volltextzugriff (PDF)

METAL: fast and efficient meta-analysis of genomewide association scans

Bioinformatics, 2010-09, Vol.26 (17), p.2190-2191

2010

Volltextzugriff (PDF)

A cross-platform analysis of 14,177 expression quantitative trait loci derived from lymphoblastoid cell lines

Genome research, 2013-04, Vol.23 (4), p.716

2013

Volltextzugriff (PDF)

Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project

American journal of human genetics, 2016-10, Vol.99 (4), p.791-801

2016

Volltextzugriff (PDF)

Handling Marker-Marker Linkage Disequilibrium: Pedigree Analysis with Clustered Markers

American journal of human genetics, 2005-11, Vol.77 (5), p.754-767

2005

Volltextzugriff (PDF)

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

Nature genetics, 2012-08, Vol.44 (8), p.955-959

2012

Volltextzugriff (PDF)

Optimal sequencing strategies for identifying disease-associated singletons

PLoS genetics, 2017-06, Vol.13 (6), p.e1006811-e1006811

2017

Volltextzugriff (PDF)

Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis

Nature communications, 2019-04, Vol.10 (1), p.1847-1847, Article 1847

2019

Volltextzugriff (PDF)

An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data

Genome research, 2015-06, Vol.25 (6), p.918

2015

Volltextzugriff (PDF)

minimac2: faster genotype imputation

Bioinformatics (Oxford, England), 2015-03, Vol.31 (5), p.782-784

2015

Volltextzugriff (PDF)

LabWAS: Novel findings and study design recommendations from a meta-analysis of clinical labs in two independent biobanks

PLoS genetics, 2020-11, Vol.16 (11), p.e1009077-e1009077

2020

Volltextzugriff (PDF)

Global Gene Expression Analysis Reveals Evidence for Decreased Lipid Biosynthesis and Increased Innate Immunity in Uninvolved Psoriatic Skin

Journal of investigative dermatology, 2009-12, Vol.129 (12), p.2795-2804

2009

Volltextzugriff (PDF)

MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes

Genetic epidemiology, 2010-12, Vol.34 (8), p.816-834

2010

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Rare-Variant Association Analysis: Study Designs and Statistical Tests

RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data

LocusZoom.js: interactive and embeddable visualization of genetic association study results

Reference-based phasing using the Haplotype Reference Consortium panel

Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies

Exome sequencing and complex disease: practical aspects of rare variant association studies

Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies

Analysis of long non-coding RNAs highlights tissue-specific expression patterns and epigenetic profiles in normal and psoriatic skin

PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

Correcting for Sample Contamination in Genotype Calling of DNA Sequence Data

CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration

Unified representation of genetic variants

METAL: fast and efficient meta-analysis of genomewide association scans

A cross-platform analysis of 14,177 expression quantitative trait loci derived from lymphoblastoid cell lines

Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project

Handling Marker-Marker Linkage Disequilibrium: Pedigree Analysis with Clustered Markers

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

Optimal sequencing strategies for identifying disease-associated singletons

Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis

An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data

minimac2: faster genotype imputation

LabWAS: Novel findings and study design recommendations from a meta-analysis of clinical labs in two independent biobanks

Global Gene Expression Analysis Reveals Evidence for Decreased Lipid Biosynthesis and Increased Innate Immunity in Uninvolved Psoriatic Skin

MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes

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