Jennifer McDaniel

TL;DR: A large, diverse set of sequencing data for seven human genomes is described; five are current or candidate NIST Reference Materials and two Personal Genome Project trios, one of Ashkenazim Jewish ancestry and one of Chinese ancestry are described.

TL;DR: Results indicate that cells are more sensitive to scaffold structure than previously appreciated and suggest that scaffold efficacy can be optimized by tailoring the scaffolds structure to force cells into morphologies that direct them to differentiate down the desired lineage.

TL;DR: A reproducible, cloud-based pipeline is applied to integrate multiple short- and linked-read sequencing datasets and provide benchmark calls for human genomes to demonstrate that this benchmark reliably identifies errors in existing callsets and highlight challenges in interpreting performance metrics when using benchmarks that are not perfect or comprehensive.

TL;DR: The T2T-CHM13 reference as mentioned in this paper contains gapless assemblies for all 22 autosomes plus Chromosome X, corrected numerous errors, and introduced nearly 200 million bp of novel sequence containing 2,226 paralogous gene copies, 115 of which are predicted to be protein coding.

TL;DR: A large, diverse set of sequencing data for seven human genomes is described; five are current or candidate NIST Reference Materials and two Personal Genome Project trios, one of Ashkenazim Jewish ancestry and one of Chinese ancestry are described.