Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

Aaron M. Wenger, Paul Peluso, William J. Rowell, +25

Nature Biotechnology

Long-read SequencingFunctional GenomicsAccurate Circular ConsensusEngineeringNext-generation Sequencing +12

A draft human pangenome reference

Wen‐Wei Liao, Mobin Asri, Jana Ebler, +116

Nature

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

Peter Ebert, Peter A. Audano, Qihui Zhu, +62

Science

Structural VariationGeneticsMolecular BiologyGenomicsHuman Phenotypes +15

Pangenome graph construction from genome alignments with Minigraph-Cactus

Glenn Hickey, Jean Monlong, Jana Ebler, +118

Nature Biotechnology

Pangenome Graph ConstructionPhylogeneticsMolecular EcologyNatural SciencesGenetics +6

Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes

Jana Ebler, Peter Ebert, Wayne E. Clarke, +9

Nature Genetics

Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads

David Porubský, Peter Ebert, Peter A. Audano, +18

Nature Biotechnology

Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders

David Porubský, Wolfram Höps, Hufsah Ashraf, +22

Cell

Recombination between heterologous human acrocentric chromosomes

Andrea Guarracino, Silvia Buonaiuto, Leonardo Gomes de Lima, +120

Nature

Increased mutation and gene conversion within human segmental duplications

Mitchell R. Vollger, Philip C. Dishuck, William T. Harvey, +127

Nature

Haplotype threading: accurate polyploid phasing from long reads

Sven Schrinner, Rebecca Serra Mari, Jana Ebler, +6

Genome biology