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review various genomic rearrangement notation

Open nlwashington opened this issue 9 years ago • 0 comments

i have been pointed to the documentation for chromosomal rearrangements: http://onlinelibrary.wiley.com/doi/10.1002/0471142905.hga04cs17/pdf

this has a lot of good information about karyotypes, and all the kinds of things that can happen. here's some examples of real karyotypes in the coriell data to model:

*46;XX;46;XX;der(10)(10qter>10p15::11q13>11qter) [13]/46;XX[37];46;XX{82}/46;XX;der(10)t(10;11)(p15;q13) {14}/47;XXX{4} *46;XX;inv(8)(p11.2q22)[8]/46;XX;dup(14)(q32.2q31)[6]/46;XX;t(6;10)(p22;q26)[2]/46;XX[34] *45;X/46;XX;46;XX *45;X{4}/46;XY{92}/47;XY;+18{4};46;XY/47;XY;+18

nlwashington avatar Mar 10 '15 20:03 nlwashington