copy number analysis

Even in schizophrenia cases lacking intellectual disability, investigators found that rare mutations in genes normally resistant to loss-of-function changes were enriched.

Members of the ProfiLER trial identified actionable mutations in more than half of individuals with advanced cancers, though only a fraction received targeted therapy.

Researchers are developing new algorithms and using machine-learning techniques that can integrate vast amounts of cancer omics data to identify potential therapies.

Shared gastric adenocarcinoma tumor features seem to span geography and ethnicity, despite shifts in the proportion of tumors from different molecular subtypes.

A multi-region analysis of medulloblastoma and other tumor types highlighted the dramatic somatic alteration differences that can crop up within a single tumor.

Protein patterns in patient-derived xenografts sometimes pointed to different alterations than those predicted from somatic mutation and expression data.

This Week in PNAS

In PNAS this week: transcriptional patterns in breast cancer cell lines, study of non-CG methylation, and more.

Researchers used the approach, which analyzes somatic copy number alterations, to identify a targetable pathway, which they then blocked effectively using currently available drugs.

The results of the Harvard-led study suggest that the immune system struggles to infiltrate and attack tumors with more aneuploidy.

The method allows analysis of copy number at the individual cell level with greater coverage uniformity and more reliable detection than other approaches.

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Polygamy amplified a rare genetic disease in area near Arizona-Utah border, BBC Future reports.

Genetic ancestry testing led one woman to learn that her father and another baby boy had been switched at birth, the Washington Post reports.

Simple de-identification methods can protect information in a database from attackers, a new study suggests.

In Science this week: approach to visualize chromatin structure in nuclei, and more.