NPGREAT: assembly of human subtelomere regions with the use of ultralong nanopore reads and linked-reads

The complete sequence of a human genome

(2022) Sergey Nurk et al.   SCIENCE

Upstart DNA sequencers could be a ‘game changer’

(2022) Elizabeth Pennisi   SCIENCE

Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping

(2020) Eleanor Young et al.   PLoS Genetics

Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes

(2020) Kishwar Shafin et al.   NATURE BIOTECHNOLOGY

Single-molecule analysis of subtelomeres and telomeres in Alternative Lengthening of Telomeres (ALT) cells

(2020) Heba Z. Abid et al.   BMC GENOMICS

Ultralow-input single-tube linked-read library method enables short-read second-generation sequencing systems to routinely generate highly accurate and economical long-range sequencing information

(2020) Zhoutao Chen et al.   GENOME RESEARCH

Long-read human genome sequencing and its applications

(2020) Glennis A. Logsdon et al.   NATURE REVIEWS GENETICS

Efficient and unique cobarcoding of second-generation sequencing reads from long DNA molecules enabling cost-effective and accurate sequencing, haplotyping, and de novo assembly

(2019) Ou Wang et al.   GENOME RESEARCH

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

(2018) Miten Jain et al.   NATURE BIOTECHNOLOGY

High-throughput single-molecule telomere characterization

(2017) Jennifer McCaffrey et al.   GENOME RESEARCH

Direct determination of diploid genome sequences

(2017) Neil I. Weisenfeld et al.   GENOME RESEARCH

Telomeres in cancer: tumour suppression and genome instability

(2017) John Maciejowski et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Icarus: visualizer for de novo assembly evaluation

(2016) Alla Mikheenko et al.   BIOINFORMATICS

Subtelomeric CTCF and cohesin binding site organization using improved subtelomere assemblies and a novel annotation pipeline

(2014) N. Stong et al.   GENOME RESEARCH

QUAST: quality assessment tool for genome assemblies

(2013) Alexey Gurevich et al.   BIOINFORMATICS

The telomere syndromes

(2012) Mary Armanios et al.   NATURE REVIEWS GENETICS

Removal of Shelterin Reveals the Telomere End-Protection Problem

(2012) A. Sfeir et al.   SCIENCE

Linking functional decline of telomeres, mitochondria and stem cells during ageing

(2010) Ergün Sahin et al.   NATURE

Short Telomeres are Sufficient to Cause the Degenerative Defects Associated with Aging

(2009) Mary Armanios et al.   AMERICAN JOURNAL OF HUMAN GENETICS