RISCALW

Record added by Jurg Ott (the original Rockefeller list)

Full Name

RISk CALculation in Windows

Description

RISCALW is a novel convenient Windows program for risk calculation in families with Duchenne muscular dystrophy. It is based on an extended genetic model which includes germline mosaicism and different new mutation rates depending on sex and mutation type. Arbitrary family structures and additional diagnostic information like genotypes from intragenetic and flancing genetic markers of the dystrophin gene, creatin kinase values and female deletion test results can be taken into account.

Author

Christine Fischer (email: christine.fischer@med.uni-heidelberg.de)

URL

http://www.riscalw.uni-hd.de

Language

Delphi 4

OS

MS-Windows

Reference

  • Fischer, Kruger, Gross (2006), “RISCALW: a windows program for risk calculation in families with Duchenne Muscular Dystrophy”, Annals of Human Genetics, 70:249-254.

  • Fischer, Gross, Kruger, Cremer, Vogel, Grimm (2006), “Modeling germline mosaicism and different new mutation rates simultaneously for appropriate risk calculations in families with Duchenne muscular dystrophy”, Annals of Human Genetics, 70:237-248.