copy number analysis

Analyzing genome sequences from dozens of cases and controls, researchers saw an IBD-associated jump in somatic mutations in colonic crypt samples.

The analysis suggested CDK7 inhibitors could boost the sensitivity of tumor cells capable of homologous recombination to PARP inhibitor treatment.

Along with significantly mutated genes across cutaneous melanoma cases, researchers saw loss-of-function mutations in the X chromosome gene DDX3X in tumors from male patients.

Individuals with germline PTEN mutations who have autism spectrum disorder or developmental delay often also have copy number variations, a new study has found.

The finding suggests that African-American patients may be more likely to respond to treatment with poly ADP ribose polymerase (PARP) inhibitors.

Researchers at MD Anderson Cancer Center found that somatic copy number alterations are more frequent in normal tissue surrounding tumor than in blood.

An analysis of placental, parental, and cord blood samples indicated that an uptick in chromosomal instability in cleavage-stage in vitro fertilization embryos does not persist after birth.

Using single-cell sequencing and an in vitro culture system, researchers followed transcriptomic and epigenomic features over time in three main embryonic cell lineages.