Enfermedades no diagnosticables por secuenciación.

Limitations of exome sequencing:

Mutations located outside the exome.

Deep intronic mutations.
Mitochondrial diseases.

Diseases located in the exome, but whose type of genetic variation is not identifiable by sequencing.

Diseases caused by triplet expansions (short tandem repeats).

Diseases caused by imprinting or uniparental disomy.
Diseases caused by structural rearrangements.

Diseases located in the exome, monogenetic, identifiable by Sanger sequencing, but that present technical challenges as a result of shotgun sequencing:

Pseudogenes.
Somatic mosaicism.
Intragenic deletions (exon level deletions).

Diseases located in the exome, monogenetic, identifiable by Sanger sequencing, but that present technical challenges as a result of PCR amplification processes:

G-C ratio in the genome.

Other limitations:

Phasing.