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The Sherlock-Lung study analyzes tumor genomic changes as ‘fingerprints’ to infer carcinogenic processes and evolutionary trajectories of lung cancer in never smokers.
Although it should be a given that scholarly communication must be clear and accurate, researchers, particularly those in the field of human genetics, can also promote the responsible reporting of their findings to a broader public audience in ways that heighten understanding and reduce misinterpretation.
Here we introduce ‘FAQs on Genomic Studies’ (FoGS), an open-access repository of explanatory documents that accompany genomic analyses in social and behavioral genomics. For fields such as social and behavioral genomics that are shaped by an ugly history and uncertain future, socially and ethically responsible research and research communication are crucial. FoGS amplifies one such approach towards responsible research communication.
A genome-wide association study performed in 1,126,563 individuals identifies seven new loci associated with Alzheimer’s disease and implicates microglia and immune cells in late-onset disease.
Sex-stratified GWAS analyses for 530 traits within 452,264 individuals of European ancestry from the UK Biobank provide insights into the scope of genotype by sex (GxS) interactions and the genetics of sex differences.
The eQTL Catalogue provides uniform processing of 21 eQTL studies, allowing the identification of highly reproducible eQTLs affecting whole gene and transcript expression levels.
Analyses of expression profiles from whole blood of 31,684 individuals identify cis-expression quantitative trait loci (eQTL) effects for 88% of genes and trans-eQTL effects for 37% of trait-associated variants.
DNA methylation quantitative trait locus (mQTL) analyses on 32,851 participants identify genetic variants associated with DNA methylation at 420,509 sites in blood, resulting in a database of >270,000 independent mQTLs.
Cell-type-specific eQTL maps in the human kidney generated from the analysis of over 600 microdissected kidney samples, together with single-cell RNA sequencing and single-nucleus ATAC-seq, prioritize cell types influencing kidney function, hypertension and other traits.
A multi-omic atlas of breast cancers, integrating single-cell RNA sequencing, spatial transcriptomics and immunophenotyping, identifies nine ecotypes associated with cellular heterogeneity and prognosis.
Whole-genome sequencing of lung cancer in never smokers identifies different copy number subtypes and shows a lack of tobacco smoking signatures, even in cases exposed to secondhand smoke.
Sequence analysis identifies gain-of-function somatic mutations in GNA11 or GNAQ in CTNNB1-mutant aldosterone-producing adenomas. Most patients with these mutations presented during puberty, pregnancy or menopause, with elevated LHCGR expression.
Analysis of a chromosome-level bowfin genome assembly sheds light into neopterygian fish evolution. Chromatin accessibility and gene expression profiling provides insight into bowfin embryonic development.
High-quality genomes of two cultivated tetraploid cottons Gossypium hirsutum cv. NDM8 and Gossypium barbadense acc. Pima90 and resequencing of 1,081 G. hirsutum accessions provide insights into the role of structural variations.
A chromosome-scale de novo assembly of a yellow-seeded Brassica juncea genome and population analyses of 480 accessions from 38 countries provide insights into the origin, domestication history and morphological diversification of B. juncea.