Table 2.

FISH applications in genetic diagnosis and research.

Genetics diagnosis	References	Research applications	References
Constitutional chromosomal and genomic abnormalities		Analysis complex chromosomal rearrangements
Rapid screening of common aneuploidies	Ried et al., 1992	Mapping breakpoints and genomic orientation	Donnelly et al., 2010
Detection of microdeletion/microduplication syndromes	Wei et al., 2013	The study of 3D chromosomal structures	Dupont et al., 2012
Characterization of subtelomeric rearrangements	Ning et al., 1996	Define complex rearrangements	Mackinnon and Campbell, 2013
Analysis of supernumerary marker and ring chromosomes	Zhang et al., 2012	Characterizing nuclear genomic structures
Somatic recurrent chromosomal abnormalities		Spatiotemporal organization of centromeres/telomeres	Chen et al., 2013
Detection of translocations, deletions, duplications/amplifications	Hu et al., 2014	Chromatin interaction during cell cycle	Deng et al., 2015
Monitoring disease progression and clonal evolution	Mikhail et al., 2016	in situ chromosome haplotyping	Beliveau et al., 2015
Assessment of sex-mismatch bone marrow transplantation	Liehr et al., 2015	Profiling RNA transcription and localization
Infectious diseases		Quantitation of multiplex mRNAs in single cells	Lubeck et al., 2014
Detection of malaria by 16s rRNA	Shah et al., 2015	Subcellular localization of mRNAs and non-coding RNAs	Cabili et al., 2015