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copy number analysis

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.

One of the largest repositories of molecular brain cancer data in the world, the enhanced REMBRANDT is more comprehensive than an earlier NCI-hosted version.

Diet- and height-related variants were selected for in a Flores Island pygmy population, according to a study, which also provided insights into the population's history.

Array-based copy number analysis of primary intrahepatic cholangiocarcinomas and matched lymph node metastases revealed a tumor cluster with ties to survival.

With panel sequencing data for more than 143,000 individuals, researchers characterized intragenic copy number variants in hundreds of monogenic disease genes.

A multi-region analysis of colorectal cancers suggests samples from opposite sides of a tumor can help trace early, invasiveness-related tumor characteristics.

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The Wall Street Journal looks into FamilyTreeDNA's handling of genetic genealogy searches by law enforcement.

In a point-counterpoint in the Boston Globe, researchers discuss the potential of gene editing to prevent Lyme disease, but also the pitfalls of doing so.

MIT's Technology Review reports that researchers hope to develop a CRISPR-based pain therapy.

In Science this week: atlas of malaria parasites' gene expression across their life cycles, and more.