Concepedia

Long-read sequence and assembly of segmental duplications

Mitchell R. Vollger, Philip C. Dishuck, Melanie Sorensen, AnneMarie E. Welch, Vy Dang, Max L. Dougherty, Tina A. Graves-Lindsay, Richard K. Wilson, Mark Chaisson, Evan E. Eichler

Nature Methods · 2018 · 252 citations · 45 references

DOI

Concepts

References

45

Initial sequencing and analysis of the human genome

Eric S. Lander, Lauren Linton, Bruce W. Birren et al. · Nature · 2001 · 24.6K citations · Full text

, , +10

A global reference for human genetic variation

Richard Durbin, Peter Donnelly, Paul Flicek et al. · Nature · 2015 · 20K citations · Full text

, , +13

Minimap2: pairwise alignment for nucleotide sequences

Heng Li · Bioinformatics · 2018 · 16.8K citations · Full text

, , +17

Canu: scalable and accurate long-read assembly via adaptive <i>k</i> -mer weighting and repeat separation

Sergey Koren, Brian P. Walenz, Konstantin Berlin et al. · Genome Research · 2017 · 8.2K citations · Full text

, , +16

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

Peter H. Sudmant, Tobias Rausch, Eugene J. Gardner et al. · Nature · 2015 · 2.7K citations · Full text

, , +17