A high-quality reference panel reveals the complexity and distribution of structural genome changes in a human population
Jayne Y. Hehir-Kwa,
Wigard P. Kloosterman,
Laurent C Francioli,
Jasmijn A Baaijens,
Louis J. Dijkstra,
Djie Tjwan Thung,
Bradley P. Coe,
Joep de Ligt,
Freerk van Dijk,
The Genome of the Netherlands Consortium,
André G. Uitterlinden,
Evan E. Eichler,
Paul de Bakker,
Morris A. Swertz,
Gert-Jan B. van Ommen,
P Eline Slagboom,
Dorret I Boomsma,
Posted 18 Jan 2016
bioRxiv DOI: 10.1101/036897
Posted 18 Jan 2016
Structural variation (SV) represents a major source of differences between individual human genomes and has been linked to disease phenotypes. However, the majority of studies provide neither a global view of the full spectrum of these variants nor integrate them into reference panels of genetic variation. Here, we analyse whole genome sequencing data of 769 individuals from 250 Dutch families, and provide a haplotype-resolved map of 1.9 million genome variants across 9 different variant classes, including novel forms of complex indels, and retrotransposition-mediated insertions of mobile elements and processed RNAs. A large proportion are previously under reported variants sized between 21 and 100bp. We detect 4 megabases of novel sequence, encoding 11 new transcripts. Finally, we show 191 known, trait-associated SNPs to be in strong linkage disequilibrium with SVs and demonstrate that our panel facilitates accurate imputation of SVs in unrelated individuals. Our findings are essential for genome-wide association studies.
- Downloaded 1,248 times
- Download rankings, all-time:
- Site-wide: 12,247 out of 118,294
- In genetics: 653 out of 5,135
- Year to date:
- Site-wide: 72,549 out of 118,294
- Since beginning of last month:
- Site-wide: 42,959 out of 118,294
Downloads over time
Distribution of downloads per paper, site-wide
- 27 Nov 2020: The website and API now include results pulled from medRxiv as well as bioRxiv.
- 18 Dec 2019: We're pleased to announce PanLingua, a new tool that enables you to search for machine-translated bioRxiv preprints using more than 100 different languages.
- 21 May 2019: PLOS Biology has published a community page about Rxivist.org and its design.
- 10 May 2019: The paper analyzing the Rxivist dataset has been published at eLife.
- 1 Mar 2019: We now have summary statistics about bioRxiv downloads and submissions.
- 8 Feb 2019: Data from Altmetric is now available on the Rxivist details page for every preprint. Look for the "donut" under the download metrics.
- 30 Jan 2019: preLights has featured the Rxivist preprint and written about our findings.
- 22 Jan 2019: Nature just published an article about Rxivist and our data.
- 13 Jan 2019: The Rxivist preprint is live!