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Cold Spring Harbor Laboratory


Mutation detection in human in vitro fertilized embryos using whole-genome sequencing

Researchers used a new whole-genome sequencing method to detect potential disease-causing mutations in human IVF embryos, detecting 82% of single base de novo mutations. The technique, which uses DNA barcodes and advanced sequencing technology, can help identify the cause of congenital disorders such as intellectual disability and autism.

SourceCold Spring Harbor Laboratory·JournalGenome Research·DateFeb 11, 2015

Re-learning how to read a genome

A recent study suggests that genes and regulatory elements share a common architecture in their reading processes, with the main differences occurring after the initial step. This unified model could provide insight into how genes evolve and shed light on the evolutionary origins of new genes.

SourceCold Spring Harbor Laboratory·JournalNature Genetics·DateNov 10, 2014

Research may explain how foremost anticancer 'guardian' protein learned to switch sides

Researchers at Cold Spring Harbor Laboratory have discovered a new function of the body's most important tumor-suppressing protein, p53. A previously unknown variant of p53 called p53-psi reduces cell adhesion and promotes metastatic potential by interacting with cyclophillin D and generating reactive oxygen species.

SourceCold Spring Harbor Laboratory·JournalProceedings of the National Academy of Sciences·DateJul 29, 2014