The approach, called Lung-CLiP, couples machine learning trained on epigenetic and clonal frequency data with the detection of alterations in blood-borne DNA.
Individuals with germline PTEN mutations who have autism spectrum disorder or developmental delay often also have copy number variations, a new study has found.
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.
An international team documented TP53 mutation-related genomic changes across dozens of cancer types using data generated with five platforms for the Cancer Genome Atlas project.
A genomic and transcriptomic analysis of an aggressive form of leukemia suggests that subtypes differ in their prognosis and may respond to different therapies.
Several groups are comparing Bionano with standard cytogenetic assays like karyotyping, FISH, or array CGH for blood cancer or genetic disease testing.
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.
