Nicholas Stoler

TL;DR: In this paper, the error rate of most public sequencing datasets was determined using the overlaps between reads that are a feature of many sequencing libraries, and the importance of sequence context, especially the phenomenon where preceding bases bias the following bases toward the same identity.

TL;DR: A high-resolution study of heteroplasmy transmission conducted on blood and buccal mtDNA of 39 healthy mother–child pairs of European ancestry finds a positive association between the number of child heteroplasmies and maternal age at fertilization, enabling prediction of transmission of disease-causing variants and informing mtDNA evolution.

TL;DR: The proliferation of web-based integrative analysis frameworks has enabled users to perform complex analyses directly through the web but revoked the freedom to easily select the most appropriate tools, so Galaxy ToolShed is developed.

TL;DR: This study deciphered for the first time the intricacies of germline de novo mutagenesis using duplex sequencing directly in oocytes, which provided unprecedented resolution and minimized selection effects present in pedigree studies.