Concepedia

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease

Edwin M. Stone, Jeaneen L. Andorf, S. Scott Whitmore, Adam P. DeLuca, Joseph C. Giacalone, Luan M. Streb, Terry A. Braun, Robert F. Mullins, Todd E. Scheetz, Val C. Sheffield,

Ophthalmology · 2017 · 468 citations · 49 references

DOIFull text

Open access

Concepts

References

49

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

, , +12

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

The Sequence of the Human Genome

J. Craig Venter, Mark D. Adams, Eugene W. Myers et al. · Science · 2001 · 13.7K citations

, , +11

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

Heng Li, Richard Durbin · Bioinformatics · 2010 · 12.9K citations · Full text

, , +16

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