Chunlin Xiao

TL;DR: The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations, and has reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-generation sequencing, deep exome sequencing, and dense microarray genotyping.

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: Members of the project data coordination center have developed and deployed several tools to enable widespread data access and to create a deep catalog of human genetic variation.

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: A sequence-resolved benchmark set for identification of both false-negative and false-positive germline large insertions and deletions is developed and it is demonstrated that the benchmark set reliably identifies false negatives and false positives in high-quality SV callsets from short-, linked- and long-read sequencing and optical mapping.