Guidelines for investigating causality of sequence variants in human disease

DG MacArthur, TA Manolio, DP Dimmock, HL Rehm… - Nature, 2014 - nature.com
The discovery of rare genetic variants is accelerating, and clear guidelines for distinguishing
disease-causing sequence variants from the many potentially functional variants present in …

Chapter 11: Genome-wide association studies

WS Bush, JH Moore - PLoS computational biology, 2012 - journals.plos.org
Genome-wide association studies (GWAS) have evolved over the last ten years into a
powerful tool for investigating the genetic architecture of human disease. In this work, we …

Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome

CS Storm, DA Kia, MM Almramhi… - Nature …, 2021 - nature.com
Parkinson's disease is a neurodegenerative movement disorder that currently has no
disease-modifying treatment, partly owing to inefficiencies in drug target identification and …

Association of host genome with intestinal microbial composition in a large healthy cohort

W Turpin, O Espin-Garcia, W Xu, MS Silverberg… - Nature …, 2016 - nature.com
Intestinal microbiota is known to be important in health and disease. Its composition is
influenced by both environmental and host factors. Few large-scale studies have evaluated …

ClinGen—the clinical genome resource

HL Rehm, JS Berg, LD Brooks… - … England Journal of …, 2015 - Mass Medical Soc
ClinGen — The Clinical Genome Resource | New England Journal of Medicine Skip to main
content The New England Journal of Medicine homepage Advanced Search SEARCH …

[PDF][PDF] How to make more published research true

JPA Ioannidis - Revista Cubana de Información en Ciencias de la …, 2015 - medigraphic.com
Los logros de la investigación científica son asombrosos. La ciencia se ha desarrollado
desde que unos pocos aficionados se dedicaran a una vibrante industria donde más de 15 …

Research review: polygenic methods and their application to psychiatric traits

NR Wray, SH Lee, D Mehta… - Journal of child …, 2014 - Wiley Online Library
Background Despite evidence from twin and family studies for an important contribution of
genetic factors to both childhood and adult onset psychiatric disorders, identifying robustly …

When null hypothesis significance testing is unsuitable for research: a reassessment

D Szucs, JPA Ioannidis - Frontiers in human neuroscience, 2017 - frontiersin.org
Null hypothesis significance testing (NHST) has several shortcomings that are likely
contributing factors behind the widely debated replication crisis of (cognitive) neuroscience …

Genetic architectures of psychiatric disorders: the emerging picture and its implications

PF Sullivan, MJ Daly, M O'donovan - Nature Reviews Genetics, 2012 - nature.com
Psychiatric disorders are among the most intractable enigmas in medicine. In the past 5
years, there has been unprecedented progress on the genetics of many of these conditions …

Genetics of bipolar disorder

N Craddock, P Sklar - The Lancet, 2013 - thelancet.com
Studies of families and twins show the importance of genetic factors affecting susceptibility to
bipolar disorder and suggest substantial genetic and phenotypic complexity. Robust and …