Pan-genomics in the human genome era

RM Sherman, SL Salzberg - Nature Reviews Genetics, 2020 - nature.com
Since the early days of the genome era, the scientific community has relied on a single
'reference'genome for each species, which is used as the basis for a wide range of genetic …

Structural variation in the 3D genome

M Spielmann, DG Lupiáñez, S Mundlos - Nature Reviews Genetics, 2018 - nature.com
Structural and quantitative chromosomal rearrangements, collectively referred to as
structural variation (SV), contribute to a large extent to the genetic diversity of the human …

[HTML][HTML] Influence of the microbiome, diet and genetics on inter-individual variation in the human plasma metabolome

L Chen, DV Zhernakova, A Kurilshikov… - Nature Medicine, 2022 - nature.com
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 …

[HTML][HTML] Genomic basis for RNA alterations in cancer

PCAWG Transcriptome Core Group Calabrese Claudia … - Nature, 2020 - nature.com
Transcript alterations often result from somatic changes in cancer genomes. Various forms of
RNA alterations have been described in cancer, including overexpression, altered splicing …

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 …

[HTML][HTML] The GenomeAsia 100K Project enables genetic discoveries across Asia

Nature, 2019 - nature.com
The underrepresentation of non-Europeans in human genetic studies so far has limited the
diversity of individuals in genomic datasets and led to reduced medical relevance for a large …

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 …

A tutorial on conducting genome‐wide association studies: Quality control and statistical analysis

AT Marees, H de Kluiver, S Stringer… - … journal of methods …, 2018 - Wiley Online Library
Objectives Genome‐wide association studies (GWAS) have become increasingly popular to
identify associations between single nucleotide polymorphisms (SNPs) and phenotypic …

Effect of host genetics on the gut microbiome in 7,738 participants of the Dutch Microbiome Project

EA Lopera-Maya, A Kurilshikov, A van der Graaf, S Hu… - Nature …, 2022 - nature.com
Host genetics are known to influence the gut microbiome, yet their role remains poorly
understood. To robustly characterize these effects, we performed a genome-wide …

Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

P Wainschtein, D Jain, Z Zheng, LA Cupples… - Nature Genetics, 2022 - nature.com
Analyses of data from genome-wide association studies on unrelated individuals have
shown that, for human traits and diseases, approximately one-third to two-thirds of …