Polygenic inheritance, GWAS, polygenic risk scores, and the search for functional variants

Trans Effects on Gene Expression Can Drive Omnigenic Inheritance

(2019) Xuanyao Liu et al.   CELL

Comparative genetic architectures of schizophrenia in East Asian and European populations

(2019) Max Lam et al.   NATURE GENETICS

Rare-variant collapsing analyses for complex traits: guidelines and applications

(2019) Gundula Povysil et al.   NATURE REVIEWS GENETICS

Are drug targets with genetic support twice as likely to be approved? Revised estimates of the impact of genetic support for drug mechanisms on the probability of drug approval

(2019) Emily A. King et al.   PLoS Genetics

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

(2018) Naomi R. Wray et al.   NATURE GENETICS

Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence

(2018) Jeanne E. Savage et al.   NATURE GENETICS

Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways

(2018) Mats Nagel et al.   NATURE GENETICS

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

(2018) James J. Lee et al.   NATURE GENETICS

Genetics of the human face: Identification of large-effect single gene variants

(2018) Daniel J. M. Crouch et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Polygenic risk score for schizophrenia is not strongly associated with the expression of specific genes or gene sets

(2018) David Curtis   PSYCHIATRIC GENETICS

Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry

(2018) Loic Yengo et al.   HUMAN MOLECULAR GENETICS

Rare variant analysis in multiply affected families, association studies and functional analysis suggest a role for the ITGΒ4 gene in schizophrenia and bipolar disorder

(2018) N.L. O'Brien et al.   SCHIZOPHRENIA RESEARCH

Multi-SKAT: General framework to test for rare-variant association with multiple phenotypes

(2018) Diptavo Dutta et al.   GENETIC EPIDEMIOLOGY

Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults

(2018) Michael Inouye et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

(2018) Annalisa Buniello et al.   NUCLEIC ACIDS RESEARCH

Erratum: Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence

(2017) Suzanne Sniekers et al.   NATURE GENETICS

Truncating mutations in RBM12 are associated with psychosis

(2017) Stacy Steinberg et al.   NATURE GENETICS

Reevaluation of SNP heritability in complex human traits

(2017) Doug Speed et al.   NATURE GENETICS

Whole genome sequencing in psychiatric disorders: the WGSPD consortium

(2017) Stephan J. Sanders et al.   NATURE NEUROSCIENCE

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

(2017) Flannick Jason et al.   Scientific Data

FINEMAP: efficient variable selection using summary data from genome-wide association studies

(2016) Christian Benner et al.   BIOINFORMATICS

Schizophrenia risk from complex variation of complement component 4

(2016) Aswin Sekar et al.   NATURE

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

(2016) Tarjinder Singh et al.   NATURE NEUROSCIENCE

The UK10K project identifies rare variants in health and disease

(2015)   NATURE

The support of human genetic evidence for approved drug indications

(2015) Matthew R Nelson et al.   NATURE GENETICS

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

(2015) Brendan K Bulik-Sullivan et al.   NATURE GENETICS

APOL1nephropathy: from gene to mechanisms of kidney injury

(2015) Etty Kruzel-Davila et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

FTO Obesity Variant Circuitry and Adipocyte Browning in Humans

(2015) Melina Claussnitzer et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Pfam protein families database: towards a more sustainable future

(2015) Robert D. Finn et al.   NUCLEIC ACIDS RESEARCH

Dissection of a Complex Disease Susceptibility Region Using a Bayesian Stochastic Search Approach to Fine Mapping

(2015) Chris Wallace et al.   PLoS Genetics

Rare-Variant Association Analysis: Study Designs and Statistical Tests

(2014) Seunggeung Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PRSice: Polygenic Risk Score software

(2014) Jack Euesden et al.   BIOINFORMATICS

Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics

(2014) Claudia Giambartolomei et al.   PLoS Genetics

Power and Predictive Accuracy of Polygenic Risk Scores

(2013) Frank Dudbridge   PLoS Genetics

VOLCANO PLOTS IN ANALYZING DIFFERENTIAL EXPRESSIONS WITH mRNA MICROARRAYS

(2012) WENTIAN LI   Journal of Bioinformatics and Computational Biology

Genome-wide association studies and susceptibility to infectious diseases

(2011) M. J. Newport et al.   Briefings in Functional Genomics

Common SNPs explain a large proportion of the heritability for human height

(2010) Jian Yang et al.   NATURE GENETICS

A Cytogenetic Abnormality and Rare Coding Variants Identify ABCA13 as a Candidate Gene in Schizophrenia, Bipolar Disorder, and Depression

(2009) Helen M. Knight et al.   AMERICAN JOURNAL OF HUMAN GENETICS

HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin

(2009) Ann K Daly et al.   NATURE GENETICS

Genomic selection: prediction of accuracy and maximisation of long term response

(2008) Mike Goddard   GENETICA

Common and rare variants in multifactorial susceptibility to common diseases

(2008) Walter Bodmer et al.   NATURE GENETICS

New links to the pathogenesis of Crohn disease provided by genome-wide association scans

(2007) Christopher G. Mathew   NATURE REVIEWS GENETICS