Cost-effective enrichment for >1.2 million SNPs

In-solution enrichment for more than one million single nucleotide polymorphisms (SNPs) has made it possible to generate genome-scale data for an order of magnitude lower cost than shotgun sequencing. 

This technology has also greatly increased the success rate following sampling by making it possible to study ancient remains with low proportions of human DNA.

Due to the power of this technology, about 70% of genome-wide human ancient DNA data published to date has been generated using enrichment. 

The bait sequences for ~1.24 million SNPs that have been the basis for almost all in-solution enrichment data so far were published in Fu et al. Nature 2015, but synthesis of the reagent has been cost-effective for only a few laboratories.

To address this, we have worked with two companies to generate reagents that target the same set of 1.24 million SNPs. We have tested the new reagents in our lab, and in preliminary analysis both perform at least as well as the established one. We are currently preparing a manuscript characterizing the performance of all three reagents (we are not benefiting ourselves from sale of any of them).

The Daicel Arbor Biosciences reagent, which includes options for targeting additional SNPs, is available for ordering as of March 23 2021; academic advice on SNP choice for this reagent and testing not only involved our group, but also Pontus Skoglund, Yassine Souilmi, Matthew Williams, and Xavier Roca Rada.

If you are interested in ordering the Twist Bioscience reagent, please write to David Reich.