Detection of long repeat expansions from PCR-free whole-genome sequence data.

Dolzhenko, Egor

Detection of long repeat expansions from PCR-free whole-genome sequence data. [electronic resource] - Genome research 11 2017 - 1895-1903 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

1549-5469

10.1101/gr.225672.117 doi


Algorithms
Amyotrophic Lateral Sclerosis--genetics
C9orf72 Protein--genetics
DNA Repeat Expansion
Databases, Genetic
Humans
Precision Medicine
Sensitivity and Specificity
Software
Whole Genome Sequencing--methods