Sequencing Technology

The NBSeq project will involve exome sequencing on some 1,600 newborn blood spot samples.

Emory's Madhuri Hegde presented two cases that illustrate how researchers can initially be led astray in their initial interpretation of exome data.

The updated Mantis provides researchers a tool for the automated interpretation of cancer-related somatic variants, including variants of unknown significance.

In its first years, the study has found a definitive genetic explanation for the symptoms of about a quarter of patients, and uncovered a plausible cause for a full 60 percent.

The technology involves targeted sequencing of rare extracellular microRNAs ordinarily represented by low numbers of reads and therefore hard to detect.

Diagnosing fetal chromosomal aneuploidy using massively parallel genomic sequencing
Photocleavable labeled nucleotides and nucleosides and methods for their use in DNA sequencing
Methods and systems for electronic sequencing
Method and system for determining the accuracy of DNA base identifications
Integrated carbon nanotube field effect transistor and nanochannel for sequencing

In Science this week: self-assembly of DNA components in solution, and more.

Genetics and Molecular Research retracts two gastric cancer papers for being "substantially equal" to other papers, according to Retraction Watch.

A new analysis indicates that the Ebola virus behind the current West African outbreak is mutating at about the same rate as other Ebola viruses.

With the launch of Scott Kelly into space today, the study of him and his earthbound brother to disentangle the effects of life in space from the effects of genetics kicks off.

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This live online seminar will highlight recent trends in applying next-generation sequencing in the clinical setting, with a particular focus on oncology and rare disease.