This study identifies cell type-specific molecular consequences of mosaic structural variants in hematopoietic stem and progenitor cells across aging.

Nature Genetics · May 28, 2024Peer-reviewedGenomics

De novo assembly of 64 haplotype-resolved human genomes of diverse ancestry and integrated analysis of structural variation

Peter Ebert, Peter A. Audano, Qihui Zhu, Bernardo Rodríguez–Martín, David Porubskỳ, Marc Jan Bonder, Arvis Sulovari, Jana Ebler, Weichen Zhou, Rebecca Serra Mari, Feyza Yilmaz, Xuefang Zhao, PingHsun Hsieh, Joyce Lee, Sushant Kumar, , Evan E. Eichler

The paper presents 64 haplotype-resolved human genomes using long-read sequencing and identifies structural variants, SV-eQTLs, and adaptive selection candidates.

Science · Feb 25, 2021Peer-reviewedGenetics

Single cell tri-channel-processing reveals structural variation landscapes and complex rearrangement processes

Ashley D. Sanders, Sascha Meiers, Maryam Ghareghani, David Porubskỳ, Hyobin Jeong, M. Alexandra C.C. van Vliet, Tobias Rausch, Paulina Richter‐Pechańska, Joachim B. Kunz, Silvia Jenni, Benjamin Raeder, Venla Kinanen, Jürgen Zimmermann, Vladimı́r Beneš, Martin Schrappe, , Jan O. Korbel

This paper introduces scTRIP, a method to detect structural variations in single cells, revealing new SV classes and mutational processes in cancer samples.

bioRxiv · Nov 21, 2019 · PreprintGenomics