A crossroads in the timeline of human evolution
Ancient DNA (aDNA) sequencing is like unlocking a genetic time capsule, almost bringing the past back to life…
The impact of public insurance on RRSO for HBOC in Japan: a nationwide data study
JOHBOC Registration Committee: Masami Arai (Department of Clinical Genetics, Juntendo University, Graduate School of Medicine, Tokyo, Japan), Seigo…
Investigating spatial gene circuits and gene–phenotype mechanisms with Perturb-FISH
Gene regulatory networks control functional phenotypes in cells and tissues. In complex tissues, these networks span cells and…
The contribution of gametic phase disequilibrium to the heritability of complex traits
Yang, J. et al. Common SNPs explain a large proportion of the heritability for human height. Nat. Genet.…
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…