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.
The acquisition allows Sysmex to enter the cytogenetics market and strengthens its technology base in molecular genetics, while expanding its life science business.
St. Jude Children's Research Hospital scientists have treated infants with X-linked severe combined immunodeficiency using gene therapy in an early phase study.
In Nature this week: a genomic analysis of the snailfish Pseudoliparis swirei, ancient DNA analysis gives insight into the introduction of farming to England, and more.
