PMID- 30215889 OWN - NLM STAT- MEDLINE DCOM- 20190306 LR - 20190306 IS - 1934-8258 (Electronic) IS - 1934-8258 (Linking) VI - 99 IP - 1 DP - 2018 Oct TI - Multicolor Fluorescence In Situ Hybridization (FISH) Approaches for Simultaneous Analysis of the Entire Human Genome. PG - e70 LID - 10.1002/cphg.70 [doi] AB - Analysis of the organization of the human genome is vital for understanding genetic diversity, human evolution, and disease pathogenesis. A number of approaches, such as multicolor fluorescence in situ hybridization (FISH) assays, cytogenomic microarray (CMA), and next-generation sequencing (NGS) technologies, are available for simultaneous analysis of the entire human genome. Multicolor FISH-based spectral karyotyping (SKY), multiplex FISH (M-FISH), and Rx-FISH may provide rapid identification of interchromosomal and intrachromosomal rearrangements as well as the origin of unidentified extrachromosomal elements. Recent advances in molecular cytogenetics have made it possible to efficiently examine the entire human genome in a single experiment at much higher resolution and specificity using CMA and NGS technologies. Here, we present an overview of the approaches available for genome-wide analyses. (c) 2018 by John Wiley & Sons, Inc. CI - (c) 2018 John Wiley & Sons, Inc. FAU - Zhang, Chengsheng AU - Zhang C AD - Jackson Laboratory for Genomic Medicine, Farmington, Connecticut. FAU - Cerveira, Eliza AU - Cerveira E AD - Jackson Laboratory for Genomic Medicine, Farmington, Connecticut. FAU - Rens, Willem AU - Rens W AD - University of Cambridge, Cambridge, United Kingdom. FAU - Yang, Fengtang AU - Yang F AD - University of Cambridge, Cambridge, United Kingdom. FAU - Lee, Charles AU - Lee C AD - Jackson Laboratory for Genomic Medicine, Farmington, Connecticut. LA - eng PT - Journal Article DEP - 20180914 PL - United States TA - Curr Protoc Hum Genet JT - Current protocols in human genetics JID - 101287858 SB - IM MH - Chromosome Painting/*methods MH - *Genome, Human MH - Genomics/*methods MH - High-Throughput Nucleotide Sequencing/*methods MH - Humans MH - In Situ Hybridization, Fluorescence/*methods MH - Spectral Karyotyping/*methods OTO - NOTNLM OT - Rx-FISH OT - cytogenomic microarray OT - genome-wide analysis OT - multiplex FISH OT - next-generation sequencing OT - spectral karyotyping EDAT- 2018/09/15 06:00 MHDA- 2019/03/07 06:00 CRDT- 2018/09/15 06:00 PHST- 2018/09/15 06:00 [pubmed] PHST- 2019/03/07 06:00 [medline] PHST- 2018/09/15 06:00 [entrez] AID - 10.1002/cphg.70 [doi] PST - ppublish SO - Curr Protoc Hum Genet. 2018 Oct;99(1):e70. doi: 10.1002/cphg.70. Epub 2018 Sep 14.