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Showing 1–12 of 12 results

Advanced filters: Author: Peter A. Audano Clear advanced filters

Complex genetic variation in nearly complete human genomes

Using sequencing and haplotype-resolved assembly of 65 diverse human genomes, complex regions including the major histocompatibility complex and centromeres are analysed.

Glennis A. Logsdon
Peter Ebert
Tobias Marschall
ResearchOpen Access23 Jul 2025
Nature

Volume: 644, P: 430-441
Author Correction: Complex genetic variation in nearly complete human genomes

Glennis A. Logsdon
Peter Ebert
Tobias Marschall
Amendments and CorrectionsOpen Access26 Aug 2025
Nature

Volume: 645, P: E6
Multi-platform discovery of haplotype-resolved structural variation in human genomes

Structural variants (SVs) in human genomes contribute diversity and diseases. Here, the authors use a multi-platform strategy to generate haplotype-resolved SVs for three human parent–child trios.

Mark J. P. Chaisson
Ashley D. Sanders
Charles Lee
ResearchOpen Access16 Apr 2019
Nature Communications

Volume: 10, P: 1-16
Assembly of 43 human Y chromosomes reveals extensive complexity and variation

De novo assemblies of 43 Y chromosomes spanning 182,900 years of human evolution reveal considerable diversity in the size and structure of the human Y chromosome.

Pille Hallast
Peter Ebert
Charles Lee
Research23 Aug 2023
Nature

Volume: 621, P: 355-364
Transposable element-mediated rearrangements are prevalent in human genomes

Here the authors show that transposable element-mediated rearrangements impact more than 500 kbp of an average human genome, are a source of individual variation, a substrate for evolutionary change, and can occur through diverse mechanisms.

Parithi Balachandran
Isha A. Walawalkar
Christine R. Beck
ResearchOpen Access19 Nov 2022
Nature Communications

Volume: 13, P: 1-14
A high-quality bonobo genome refines the analysis of hominid evolution

A high-quality bonobo genome assembly provides insights into incomplete lineage sorting in hominids and its relevance to gene evolution and the genetic relationship among living hominids.

Yafei Mao
Claudia R. Catacchio
Evan E. Eichler
ResearchOpen Access05 May 2021
Nature

Volume: 594, P: 77-81
Long-read assembly of the Chinese rhesus macaque genome and identification of ape-specific structural variants

Comparative genomic analysis of human and primate relatives can reveal important biological and evolutionary insights. Here, the authors present a long-read assembly of the Chinese rhesus macaque genome and identify ape-specific structural variants.

Yaoxi He
Xin Luo
Bing Su
ResearchOpen Access17 Sept 2019
Nature Communications

Volume: 10, P: 1-14
Impact and characterization of serial structural variations across humans and great apes

Structural variants (SV) can accumulate in repeat-rich parts of the genome and transform them in unexpected ways. Here, with their new assembly-based genotyper (NAHRwhals), the authors verify multi-step SVs in 37 human loci and identify alleles at risk for copy-number variation.

Wolfram Höps
Tobias Rausch
Fritz J. Sedlazeck
ResearchOpen Access13 Sept 2024
Nature Communications

Volume: 15, P: 1-15
Semi-automated assembly of high-quality diploid human reference genomes

Which combination of current genome sequencing and assembly approaches results in high-quality, complete diploid genome assemblies is determined.

Erich D. Jarvis
Giulio Formenti
Karen H. Miga
ResearchOpen Access19 Oct 2022
Nature

Volume: 611, P: 519-531
Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads

Assembly of haplotype-resolved human genomes is achieved by combining short and long reads.

David Porubsky
Peter Ebert
Tobias Marschall
ResearchOpen Access07 Dec 2020
Nature Biotechnology

Volume: 39, P: 302-308
Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes

PanGenie is an alignment-free, k-mer-based tool that utilizes a haplotype-resolved pangenome reference to genotype a wide range of variants.

Jana Ebler
Peter Ebert
Tobias Marschall
ResearchOpen Access11 Apr 2022
Nature Genetics

Volume: 54, P: 518-525
SVision: a deep learning approach to resolve complex structural variants

SVision is a deep-learning-based method that can sensitively and accurately detect and characterize complex structural variants using long-read sequencing data.

Jiadong Lin
Songbo Wang
Kai Ye
Research16 Sept 2022
Nature Methods

Volume: 19, P: 1230-1233