Concepedia

Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation

Mikhail Kolmogorov, Kimberley J. Billingsley, Mira Mastoras, Melissa Meredith, Jean Monlong, Ryan Lorig-Roach, Mobin Asri, Pilar Álvarez Jerez, Laksh Malik, Ramita Dewan,

Nature Methods · 2023 · 143 citations · 50 references

DOIFull text

Open access

Concepts

References

50

Minimap2: pairwise alignment for nucleotide sequences

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

, , +17

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text

, , +14

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text

, , +17

An integrated map of genetic variation from 1,092 human genomes

Nature · 2012 · 8.2K 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