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SoftGenetics has added a variant scoring system to its NextGene software to assist researchers and clinicians using next-generation sequencing. The scoring system provides confidence scoring based on multiple factors, such as depth of coverage, directionality balance, presence of homopolymers, and sequence direction, with greater weight given to the 5'-end of the sequence. It can be used for sequences generated by the Illumina

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Sometimes genetic tests give inconclusive results and provide little reassurance to patients, the Associated Press reports.

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In Science this week: research regulation and reporting requirement reform, and more.

With H3Africa, Charles Rotimi has been working to bolster the representation of African participants and African researchers in genomics, Newsweek reports.

Sep
17
Sponsored by
SeraCare

Today’s challenging clinical next-generation sequencing applications require a rigorous, comprehensive quality control management program to ensure confidence in results.