Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes

Recombination between heterologous human acrocentric chromosomes

(2023) Andrea Guarracino et al.   NATURE

A weakly structured stem for human origins in Africa

(2023) Aaron P. Ragsdale et al.   NATURE

A draft human pangenome reference

(2023) Wen-Wei Liao et al.   NATURE

Increased mutation and gene conversion within human segmental duplications

(2023) Mitchell R. Vollger et al.   NATURE

Telomere-to-telomere assembly of diploid chromosomes with Verkko

(2023) Mikko Rautiainen et al.   NATURE BIOTECHNOLOGY

The landscape of tolerated genetic variation in humans and primates

(2023) Hong Gao et al.   SCIENCE

An Introduction to Nanopore Sequencing: Past, Present, and Future Considerations

(2023) Morgan MacKenzie et al.   Micromachines

UniAligner: a parameter-free framework for fast sequence alignment

(2023) Andrey V. Bzikadze et al.   NATURE METHODS

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

(2022) David Porubsky et al.   CELL

Automated annotation of human centromeres with HORmon

(2022) Olga Kunyavskaya et al.   GENOME RESEARCH

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

(2022) Jana Ebler et al.   NATURE GENETICS

Complete genomic and epigenetic maps of human centromeres

(2022) Nicolas Altemose et al.   SCIENCE

Epigenetic patterns in a complete human genome

(2022) Ariel Gershman et al.   SCIENCE

The complete sequence of a human genome

(2022) Sergey Nurk et al.   SCIENCE

Segmental duplications and their variation in a complete human genome

(2022) Mitchell R. Vollger et al.   SCIENCE

Selfish centromeres and the wastefulness of human reproduction

(2022) Laurence D. Hurst   PLOS BIOLOGY

Semi-automated assembly of high-quality diploid human reference genomes

(2022) Erich D. Jarvis et al.   NATURE

Global disparities in SARS-CoV-2 genomic surveillance

(2022) Anderson F. Brito et al.   Nature Communications

Haplotype-resolved de novo assembly using phased assembly graphs with hifiasm

(2021) Haoyu Cheng et al.   NATURE METHODS

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

(2021) Peter Ebert et al.   SCIENCE

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

(2021) Glennis A. Logsdon et al.   NATURE

Variation and Evolution of Human Centromeres: A Field Guide and Perspective

(2021) Karen H. Miga et al.   Annual Review of Genetics

Pangenomics enables genotyping of known structural variants in 5202 diverse genomes

(2021) Jouni Sirén et al.   SCIENCE

Pangenome Graphs

(2020) Jordan M. Eizenga et al.   Annual Review of Genomics and Human Genetics

Mapping and characterization of structural variation in 17,795 human genomes

(2020) Haley J. Abel et al.   NATURE

Telomere-to-telomere assembly of a complete human X chromosome

(2020) Karen H. Miga et al.   NATURE

The major genetic risk factor for severe COVID-19 is inherited from Neanderthals

(2020) Hugo Zeberg et al.   NATURE

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

(2020) David Porubsky et al.   NATURE BIOTECHNOLOGY

Sequence tube maps: making graph genomes intuitive to commuters

(2019) Wolfgang Beyer et al.   BIOINFORMATICS

Multi-platform discovery of haplotype-resolved structural variation in human genomes

(2019) Mark J. P. Chaisson et al.   Nature Communications

Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA

(2019) Sasha A Langley et al.   eLife

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

(2019) Aaron M. Wenger et al.   NATURE BIOTECHNOLOGY

Human chromosome‐specific aneuploidy is influenced by DNA ‐dependent centromeric features

(2019) Marie Dumont et al.   EMBO JOURNAL

Ancient Human Genomics: The First Decade

(2018) Pontus Skoglund et al.   Annual Review of Genomics and Human Genetics

Nanopore sequencing and assembly of a human genome with ultra-long reads

(2018) Miten Jain et al.   NATURE BIOTECHNOLOGY

High-resolution comparative analysis of great ape genomes

(2018) Zev N. Kronenberg et al.   SCIENCE

The dark side of centromeres: types, causes and consequences of structural abnormalities implicating centromeric DNA

(2018) V. Barra et al.   Nature Communications

Canu: scalable and accurate long-read assembly via adaptivek-mer weighting and repeat separation

(2017) Sergey Koren et al.   GENOME RESEARCH

Sex and ethnic differences in the associations between lipoprotein(a) and peripheral arterial disease in the Multi-Ethnic Study of Atherosclerosis

(2016) Nketi I. Forbang et al.   JOURNAL OF VASCULAR SURGERY

Three decades of nanopore sequencing

(2016) David Deamer et al.   NATURE BIOTECHNOLOGY

An integrated map of structural variation in 2,504 human genomes

(2015) Peter H. Sudmant et al.   NATURE

Evidence for archaic adaptive introgression in humans

(2015) Fernando Racimo et al.   NATURE REVIEWS GENETICS

Narrowing the localization of the region breakpoint in most frequent Robertsonian translocations

(2014) Malgorzata Jarmuz-Szymczak et al.   CHROMOSOME RESEARCH

Resolving the complexity of the human genome using single-molecule sequencing

(2014) Mark J. P. Chaisson et al.   NATURE

The complete genome sequence of a Neanderthal from the Altai Mountains

(2013) Kay Prüfer et al.   NATURE

A High-Coverage Genome Sequence from an Archaic Denisovan Individual

(2012) M. Meyer et al.   SCIENCE

A Draft Sequence of the Neandertal Genome

(2010) R. E. Green et al.   SCIENCE

Towards a comprehensive structural variation map of an individual human genome

(2010) Andy W Pang et al.   GENOME BIOLOGY

Lipoprotein(a) Concentration and the Risk of Coronary Heart Disease, Stroke, and Nonvascular Mortality

(2009)   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE

Real-Time DNA Sequencing from Single Polymerase Molecules

(2008) J. Eid et al.   SCIENCE