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Genome-wide analysis of RNA-binding protein (RBP) target sites identifies a major role for RBP dysregulation in complex psychiatric disorders and implicates DDHD2 as a candidate risk gene for schizophrenia.
Tractor is a statistical framework that facilitates the inclusion of admixed individuals in association studies by leveraging local ancestry. Tractor generates accurate ancestry-specific effect-size estimates and improves the resolution of association signals.
A short isoform of the SARS-CoV-2 host receptor ACE2, expressed in human nasal and bronchial respiratory epithelia, is upregulated in response to interferon treatment and rhinovirus infection, but not SARS-CoV-2 infection.
Whole-genome sequencing of monozygotic twins, along with their parents, spouses and children, identifies postzygotic mutations present in the somatic tissue of one twin, but not the other, and characterizes differences in the number and timing of these mutations.
Analysis of copy number alterations in 1,451 patient-derived xenografts (PDXs) and matched patient tumor samples shows strong conservation from patient tumors through late-passage PDXs and a lack of systematic copy number evolution driven by the mouse host.
Colorectal tumors with mutated KRAS and APC require the amino acid transporter SLC7A5 to drive tumorigenesis. Mechanistically, SLC7A5 drives transcriptional and metabolic reprogramming by maintaining intracellular amino acid levels, leading to enhanced protein synthesis.
GLIMPSE is a new method for haplotype phasing and genotype imputation of low-coverage sequencing datasets from large reference panels. GLIMPSE shows remarkable performance across different coverages and human populations.
Genomic structural equation modeling of genome-wide association data for educational attainment and cognitive test performance is used to estimate the genetic component of variation in educational attainment that is independent of cognitive ability. The study finds that noncognitive skills account for 57% of genetic variation in educational attainment.
A high tumor mutational burden (TMB) is associated with improved immunotherapy response in many tumor types. This analysis of 10,233 individuals shows that, in contrast, high TMB is associated with poorer survival in patients that have not been treated with immune checkpoint inhibitors.
A meta-analysis of genome-wide association studies across different populations highlights new risk loci and provides a genetic risk score that can stratify prostate cancer risk across ancestries.
A genetic screen designed to capture modulators of single-cell state variability identifies a new mode of altering resistance to BRAF inhibition in melanoma that pushes cells toward a more differentiated state. Modulating cellular plasticity may provide a new avenue to overcome drug resistance.