An analysis on thousands of Japanese individuals with autism spectrum disorder or schizophrenia uncovered shared pathways and an abundance of rare exonic copy number variants.
Array-based copy number analysis of primary intrahepatic cholangiocarcinomas and matched lymph node metastases revealed a tumor cluster with ties to survival.
Noninvasive prenatal screening for trisomies and sub-chromosomal alterations uncovered a fragile site expansion and related deletion present in mothers but not fetuses.
Using an integrated omics approach, researchers identified non-muscle invasive bladder cancer subtypes, along with pathways that are frequently altered in the disease.
Expression and copy number profiles from histologically normal duct tissue near tumors suggest a "field of cancerization" may exist in epithelial cells around cancer.
In PNAS this week: links between lung adenocarcinoma and lncRNA, algorithm to impute and cluster Hi-C interaction profiles from single cells, and more.
