Charles Roberts Profile picture
Head of Privates & Chief Investment Strategist @ARKInvest; techbio cofounder: AI/omics unicorn Freenome, Relation Tx. Disclosure: https://t.co/EueoFlWYza

Mar 28, 2019, 5 tweets

1/ Reducing technical bias during genetic analysis is a major challenge for molecular #diagnostics. By involving #DNA reference sequences, researchers can compare theoretical and actual test results in hopes of improving test sensitivity.

2/ However, contemporary references have the capacity to contaminate and confound analysis, making it challenging to continue optimizing test accuracy beyond a certain limit. A recent study exploited a common chemical characteristic called ‘chirality’ to build a new class of...

3/ ...synthetic, internal references for sequencing assays. #Chiral molecular are distinct from their mirror image—similar to how one’s hands, though perfect reflections, cannot be superimposed. Implementing these chiral sequences (sequins), the researchers were able to...

4/ ...increase test accuracy across a wide variety of applications—including oncology. Aligning true DNA and sequins allowed for the construction of bioinformatic filters that separated high and low-confidence data at the end of an NGS workflow.

5/ Should they be integrated into modern tests, sequins should continue tacking 9’s onto the percentage sensitivity of next-generation diagnostics.

nature.com/articles/s4146…

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