A tutorial on conducting genome‐wide association studies: Quality control and statistical analysis
Objectives Genome‐wide association studies (GWAS) have become increasingly popular to
identify associations between single nucleotide polymorphisms (SNPs) and phenotypic …
identify associations between single nucleotide polymorphisms (SNPs) and phenotypic …
Structural variation in the 3D genome
Structural and quantitative chromosomal rearrangements, collectively referred to as
structural variation (SV), contribute to a large extent to the genetic diversity of the human …
structural variation (SV), contribute to a large extent to the genetic diversity of the human …
Next-generation genotype imputation service and methods
Genotype imputation is a key component of genetic association studies, where it increases
power, facilitates meta-analysis, and aids interpretation of signals. Genotype imputation is …
power, facilitates meta-analysis, and aids interpretation of signals. Genotype imputation is …
A reference panel of 64,976 haplotypes for genotype imputation
Nature genetics, 2016 - nature.com
We describe a reference panel of 64,976 human haplotypes at 39,235,157 SNPs
constructed using whole-genome sequence data from 20 studies of predominantly …
constructed using whole-genome sequence data from 20 studies of predominantly …
Influence of the microbiome, diet and genetics on inter-individual variation in the human plasma metabolome
The levels of the thousands of metabolites in the human plasma metabolome are strongly
influenced by an individual's genetics and the composition of their diet and gut microbiome …
influenced by an individual's genetics and the composition of their diet and gut microbiome …
Organoid models of human and mouse ductal pancreatic cancer
Pancreatic cancer is one of the most lethal malignancies due to its late diagnosis and limited
response to treatment. Tractable methods to identify and interrogate pathways involved in …
response to treatment. Tractable methods to identify and interrogate pathways involved in …
An organoid platform for ovarian cancer captures intra-and interpatient heterogeneity
O Kopper, CJ De Witte, K Lõhmussaar… - Nature medicine, 2019 - nature.com
Ovarian cancer (OC) is a heterogeneous disease usually diagnosed at a late stage.
Experimental in vitro models that faithfully capture the hallmarks and tumor heterogeneity of …
Experimental in vitro models that faithfully capture the hallmarks and tumor heterogeneity of …
The UK10K project identifies rare variants in health and disease
Statistics group Ciampi Antonio 8 Greenwood Celia MT … - Nature, 2015 - nature.com
The contribution of rare and low-frequency variants to human traits is largely unexplored.
Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes …
Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes …
Multi-ethnic genome-wide association study for atrial fibrillation
C Roselli, MD Chaffin, LC Weng, S Aeschbacher… - Nature …, 2018 - nature.com
Atrial fibrillation (AF) affects more than 33 million individuals worldwide and has a complex
heritability. We conducted the largest meta-analysis of genome-wide association studies …
heritability. We conducted the largest meta-analysis of genome-wide association studies …
From the genetic architecture to synaptic plasticity in autism spectrum disorder
T Bourgeron - Nature Reviews Neuroscience, 2015 - nature.com
Genetics studies of autism spectrum disorder (ASD) have identified several risk genes that
are key regulators of synaptic plasticity. Indeed, many of the risk genes that have been …
are key regulators of synaptic plasticity. Indeed, many of the risk genes that have been …