TADeus2
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HPO - Human Phenotype Ontology
OMIM - Online Mendelian Inheritance in Man
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Case study of a patient with a balanced translocation 46,XX,t(6;14)(p25.1;q12).
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Name
Title
Assembly
Tracks
ID
Title
File name
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Height
XAxis
XAxis
XAxis
10
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Hi-C map
Hi-C gm12878 (MboI)
HiC (HIC)
20
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Virtual 4C FOXG1
Hi-C gm12878 (MboI)
HiC (Virtual 4C)
30
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Virtual 4C BMP6
Hi-C gm12878 (MboI)
HiC (Virtual 4C)
40
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Validated enhancers
NCBI RefSeq Functional Elements
Bed
50
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pLI score
pLI score (gnomAD)
Bed
60
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