Concepedia

Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization

Kévin Uguen, Claire Jubin, Yannis Duffourd, Claire Bardel, Valérie Malan, Jean‐Michel Dupont, Laïla El Khattabi, Nicolas Chatron, Antonio Vitobello, Pierre‐Antoine Rollat‐Farnier,

Molecular Genetics & Genomic Medicine · 2020 · 29 citations · 37 references

DOIFull text

Open access

Abstract

In conclusion, regarding the results of this study, 10X Genomics solution did not improve the detection and characterization of SV.

References

37

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 60.7K citations · Full text

Fast and accurate long-read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2010 · 12.5K citations · Full text

, , +17

CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

Alexej Abyzov, Alexander E. Urban, M Snyder et al. · Genome Research · 2011 · 1.8K citations · Full text

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

Ken Chen, John W. Wallis, Michael D. McLellan et al. · Nature Methods · 2009 · 1.6K citations · Full text

, , +12

Chromosome abnormalities found among 34910 newborn children: results from a 13-year incidence study in �rhus, Denmark

Johannes Nielsen, M Wohlert · Human Genetics · 1991 · 1.2K citations

, , +12