Famdenovo 0.1.1 – Calculating the probability of being de novo for a Genetic Mutation using family history data

Famdenovo 0.1.1

:: DESCRIPTION

Famdenovo is an algorithm that calculates the probability of de novo status in deleterious germline mutations using family history data.

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::DEVELOPER

Statistical Bioinformatics Lab, The University of Texas M. D. Anderson Cancer Center

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux /MacOsX
  • R package

:: DOWNLOAD

Famdenovo

:: MORE INFORMATION

Citation

Gao F, Pan X, Dodd-Eaton EB, Recio CV, Montierth MD, Bojadzieva J, Mai PL, Zelley K, Johnson VE, Braun D, Nichols KE, Garber JE, Savage SA, Strong LC, Wang W.
A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome.
Genome Res. 2020 Aug;30(8):1170-1180. doi: 10.1101/gr.249599.119. Epub 2020 Aug 18. PMID: 32817165; PMCID: PMC7462073.

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