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Guidelines for investigating causality of sequence variants in human disease
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 …
disease-causing sequence variants from the many potentially functional variants present in …
Chapter 11: Genome-wide association studies
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 …
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 …
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
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 …
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 …
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 …
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
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 …
genetic factors to both childhood and adult onset psychiatric disorders, identifying robustly …
When null hypothesis significance testing is unsuitable for research: a reassessment
Null hypothesis significance testing (NHST) has several shortcomings that are likely
contributing factors behind the widely debated replication crisis of (cognitive) neuroscience …
contributing factors behind the widely debated replication crisis of (cognitive) neuroscience …
Genetic architectures of psychiatric disorders: the emerging picture and its implications
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 …
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 …
bipolar disorder and suggest substantial genetic and phenotypic complexity. Robust and …