Patient C.
Disease gene: MFF (chromosome 2, ~ 228.2 Mb).

For each chromosome, the first image was created using SNP microarray data (Affymetrix Axiom), the second image was created using variants identified by AgileAnnotator from the exome read depth data, and the third image was created by AgileGenotyper, using the exome data to genotype known polymorphic positions.


Chromosome 1

Chromosome 2

Chromosome 3

Chromosome 4

Chromosome 5

Chromosome 6

Chromosome 7

Chromosome 8

Chromosome 9

Chromosome 10

Chromosome 11

Chromosome 12

Chromosome 13

Chromosome 14

Chromosome 15

Chromosome 16

Chromosome 17

Chromosome 18

Chromosome 19

Chromosome 20

Chromosome 21

Chromosome 22