The complete sequence of a human genome

Sergey Nurk, Sergey Koren, Arang Rhie, +96

Science

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

Valérie Schneider, Tina A. Graves-Lindsay, Kerstin Howe, +35

Genome Research

Reference AssemblyGeneticsGenetic EpidemiologyMolecular BiologyGenomics +18

Characterizing the Major Structural Variant Alleles of the Human Genome

Peter A. Audano, Arvis Sulovari, Tina A. Graves-Lindsay, +13

Cell

Genetic AnalysisAllelic VariantHaplotype DeterminationHuman PhenotypesGenetics +7

Discovery and genotyping of structural variation from long-read haploid genome sequence data

John Huddleston, Mark Chaisson, Karyn Meltz Steinberg, +13

Genome Research

Structural VariationGeneticsGenomicsClinical GeneticsHuman Phenotypes +21

High-resolution comparative analysis of great ape genomes

Zev Kronenberg, Ian T. Fiddes, David Gordon, +41

Science

The structure, function and evolution of a complete human chromosome 8

Glennis A. Logsdon, Mitchell R. Vollger, PingHsun Hsieh, +29

Nature

Long-read sequence and assembly of segmental duplications

Mitchell R. Vollger, Philip C. Dishuck, Melanie Sorensen, +7

Nature Methods

Long-read SequencingGeneticsLong-read SequenceParallel ProgrammingGenomics +4

Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility

Wesley C. Warren, R. Alan Harris, Marina Haukness, +57

Science

The complete sequence of a human genome

Sergey Nurk, Sergey Koren, Arang Rhie, +95

ChromatinFunctional GenomicsCelera GenomicsGeneticsChromosome 22 +13

Single haplotype assembly of the human genome from a hydatidiform mole

Karyn Meltz Steinberg, Valérie Schneider, Tina A. Graves-Lindsay, +10

Genome Research

Complete Reference AssemblyGeneticsMolecular BiologyMolecular GeneticsGenomics +20