ERDS a tool for detection of copy number variants (CNVs) on human genomes in next-generation sequencing data. The approach is based on paired Hidden Markov models (PHMM) and on the expected distribution of read depth detected by heterozygous sites. ERDS is NOT a good choice for the analysis of exome data.
The Author is no longer maintaining the package, but the source code is available.
Sequence analysis; Genetic variation; Genomics
Zhu M, Need AC, Han Y, Ge D, Maia JM, Zhu Q, Heinzen EL, Cirulli ET, Pelak K, He M, Ruzzo EK, Gumbs C, Singh A, Feng S, Shianna KV, Goldstein DB "Using ERDS to infer copy-number variants in high-coverage genomes." Am J Hum Genet. 2012 Sep 7;91(3):408-21. https://doi.org/10.1016/j.ajhg.2012.07.004
PMID: 22939633
PMCID: PMC3511991
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