TYPES OF KNOWN DISEASES CAUSED BY GENOMIC VARIATION … · Structural-Variation-Infographic Subject...
1
SMALL VARIANTS < 50 BASE PAIRS / VARIANT > 50 BASE PAIRS / VARIANT STRUCTURAL VARIANTS DELETION INVERSION INSERTION TANDEM DUPLICATION INTERSPERSED DUPLICATION TRANSLOCATION TYPES OF GENOMIC VARIATION STRUCTURAL VARIANTS COMPRISE MORE THAN HALF OF GENOMIC VARIATION 60% 1 BASE PAIR / VARIANT 1-49 BASE PAIRS / VARIANT KNOWN DISEASES CAUSED BY STRUCTURAL VARIANTS SCHIZOPHRENIA Deletion, Duplication CARNEY COMPLEX Deletion HEREDITARY BREAST & OVARIAN CANCER Deletion, Insertion POOR DRUG METABOLISM Duplication CHRONIC MYELOID LEUKEMIA Translocation NEUROFIBROMATOSIS Insertion SNV INDELS www.pacb.com/sv + 1,000' s MORE KNOWN… …AND MANY TO BE DISCOVERED > 20,000 STRUCTURAL VARIANTS IN A HUMAN GENOME For Research Use Only. Not for use in diagnostic procedures. PN: INF100-091817
Transcript of TYPES OF KNOWN DISEASES CAUSED BY GENOMIC VARIATION … · Structural-Variation-Infographic Subject...
SMALL
VARIANTS < 50 BASE PAIRS / VARIANT
> 50 BASE PAIRS / VARIANT
STRUCTURAL
VARIANTS
DELETION
INVERSION
INSERTION
TANDEM DUPLICATION
INTERSPERSED DUPLICATION
TRANSLOCATION
TYPES OF
GENOMIC VARIATION
STRUCTURAL VARIANTS
COMPRISE MORE THAN HALF
OF GENOMIC VARIATION
60%
1 BASE PAIR / VARIANT
1-49 BASE PAIRS / VARIANT
KNOWN DISEASES CAUSED BY
STRUCTURAL VARIANTS
SCHIZOPHRENIADeletion, Duplication
CARNEY COMPLEXDeletion
HEREDITARY BREAST & OVARIAN CANCERDeletion, Insertion
POOR DRUG METABOLISMDuplication
CHRONIC MYELOID
LEUKEMIATranslocation
NEUROFIBROMATOSISInsertion
SNV
INDELS
www.pacb.com/sv
+ 1,000'sMORE KNOWN…
…AND MANY TO
BE DISCOVERED
> 20,000STRUCTURAL
VARIANTS
IN A HUMAN
GENOME
For Research Use Only. Not for use in diagnostic procedures.PN: INF100-091817
