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Mendelian randomization (MR) and colocalization analyses are used to estimate causal effects of 1,002 plasma proteins on 225 phenotypes. Evidence from drug developmental programs shows that target-indication pairs with MR and colocalization support were more likely to be approved, highlighting the value of this approach for prioritizing therapeutic targets.
A new statistical framework to classify mutagenesis clusters identifies a novel, diffuse hypermutation pattern, named omikli, that is induced by APOBEC3 and associated with mismatch-repair activity.
Application of a new k-mer-based genome-wide association approach to 2,000 phenotypes in Arabidopsisthaliana, tomato and maize detects new associations with structural variants and with regions missing from reference genomes.
This analysis presents a harmonized meta-knowledgebase to facilitate clinical interpretation of somatic genomic variants in cancer. This community-based project highlights the need for cooperative efforts to curate clinical interpretations of somatic variants for robust practice of precision oncology.
Genetic analyses of depression based on minimal phenotyping identify nonspecific genetic risk factors shared between major depressive disorder (MDD) and other psychiatric conditions, suggesting that this approach may have limited ability to identify pathways specific to MDD.
Assessing heritability models using summary statistics from genome-wide association studies of 31 human traits shows that the Baseline LD model is realistic and can be improved by incorporating features from the LDAK model.
Analysis of whole-genome sequencing data across 2,658 tumors spanning 38 cancer types shows that chromothripsis is pervasive, with a frequency of more than 50% in several cancer types, contributing to oncogene amplification, gene inactivation and cancer genome evolution.
Analysis of mitochondrial genomes (mtDNA) by using whole-genome sequencing data from 2,658 cancer samples across 38 cancer types identifies hypermutated mtDNA cases, frequent somatic nuclear transfer of mtDNA and high variability of mtDNA copy number in many cancers.