ACMG secondary findings in the Brazilian rare genomes project: insights from 5402 genome sequencing
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, et al. ACMG recommendations for reporting…
Oncofetal reprogramming drives phenotypic plasticity in WNT-dependent colorectal cancer
A dynamic phenotypic continuum during CRC evolution The presence of an LGR5− fetal-like population has been well documented…
Genome-wide analyses identify 30 loci associated with obsessive–compulsive disorder
Department of Psychology, Humboldt-Universität zu Berlin, Berlin, Germany Nora I. Strom, Julia Klawohn & Norbert Kathmann Department of Psychiatric Phenomics and…
APOBEC3 mutagenesis drives therapy resistance in breast cancer
Study cohort This study was approved by the Memorial Sloan Kettering Cancer Center (MSKCC) Institutional Review Board (12-245)…
Three-dimensional genome landscape of primary human cancers
Multiple scales of 3D genome organization in human cancers We profiled genome-wide chromosome conformation in 69 tumor samples…
Reclassification of variants of uncertain significance in neonatal genetic diseases: implications from a clinician’s perspective
Yang L, Liu X, Li Z, Zhang P, Wu B, Wang H, et al. Genetic aetiology of early…
One but not the same — the many genomes of the brain
The human brain exhibits enormous complexity, with many thousands of cell types performing specialized functions that provide the…
Deciphering the longitudinal trajectories of glioblastoma ecosystems by integrative single-cell genomics
Experimental method detailsHuman participants and ethical approval Frozen GBM specimens that were diagnosed as ‘glioblastoma, IDH-wildtype’ according to…
The multilayered transcriptional architecture of glioblastoma ecosystems
Participants and ethical approval Frozen GBM specimens, diagnosed as ‘glioblastoma, IDH WT’ according to the WHO 2021 classification,…
Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations
Isogenic model for TP53 mutagenesis by CRISPR-HDR To assess the functional impact of TP53 variants in a controlled…