Cell: 1000 Genomes Project (1kGP) resources newly expanded high-coverage whole-genome sequencing to discover more SNVs, INDELs, SVs

Seven years ago, the 1000 Genomes Project (1kGP) published an open-access resource—low-coverage whole-genome sequencing (WGS) data of 2,504 individuals from 26 populations on five continents in the world—the first large-scale public disclosure of human Catalog of Genetic Variations

"The 1000 Genomes Project cohort is such a valuable resource, and we believe that using the latest version of short-read technology to bring sequencing to the state-of-the-art while improving previous The abundance of missing family samples, which is useful to study populations

Using state-of-the-art methods and algorithms, researchers at the New York Genome Center sequenced DNA extracted from an expanded cohort of lymphoblastoid cell lines (immortalized human B cells from peripheral blood) at a target depth of 30X genome coverage

Overall, the study demonstrates significant improvements in both discovery power and precision for variant calling, especially among rare SNVs, INDELs, and SVs that were previously unattainable with low-coverage sequencing

An important aspect of the original 1000 Genomes Project resource is that it is often used as a reference panel for variant imputation, i.

"The new imputation panel includes more loci, especially many of the more common INDELs and SVs, thereby expanding the GWAS," explains Marta Byrska-Bishop, senior bioinformatics scientist at the New York Genome Center and co-first author of the study.

Immediately after sequencing, all raw sequence data and variant call sets were released to the public through several genomic data repositories, including the International Genome Sample Resource, which was co-authored by the European Institute of Bioinformatics at the European Molecular Biology Laboratory.