Abstract
It is now becoming generally accepted that a significant amount of human genetic variation is due to structural changes of the genome rather than to base-pair changes in the DNA. As for base-pair changes, knowledge of gene and genome function has been informed by structural alterations that convey clinical phenotypes. Genomic disorders are a class of human conditions that result from structural changes of the human genome that convey traits or susceptibility to traits. The path to the delineation of genomic disorders is intertwined with the evolving technologies that have enabled the resolution of human genome analyses to continue increasing. Similarly, the ability to perform high-resolution human genome analysis has fueled the current and future clinical implementation of such discoveries in the evolving field of genome medicine.
Highlights
Progress was blocked by both technological and conceptual limitations
Genomic disorders are a class of human conditions that result from structural changes of the human genome that convey traits or susceptibility to traits
The path to the delineation of genomic disorders is intertwined with the evolving technologies that have enabled the resolution of human genome analyses to continue increasing
Summary
14.5kb yc49H7 yc225A3 522 553 557 559 571 593 603 635 639 648 681 682 723 669 MIL 1-3 MIL 2-11 MIL 3-1 MIL 5-3 MIL 7-1 MIL 8-1 MIL 9-8. Systematic studies of disorders that occur by such mechanisms may provide insights into local genome architecture that could potentially influence susceptibility to rearrangement; they may delineate the ‘rules’ for FoSTeS/MMBIR as was done for NAHR It was initially not known whether human genomic rearrangements reflected random DNA breaks or perhaps selection/survival of genomic regions that could tolerate the gains and losses of CNV. AHR, allelic homologous recombination; CMT1A, CharcotMarie-Tooth disease type 1A; CGH, comparative genomic hybridization; CNV, copy number variation; DECIPHER, database of chromosomal imbalance and phenotype in humans using Ensembl resources; FoSTeS, fork stalling and template switching; GWAS, genome-wide association study; HNPP, hereditary neuropathy with liability to pressure palsies; LCR, low-copy repeat; MMBIR, microhomology mediated break induced replication; NAHR, non-allelic homologous recombination; PTLS, Potocki-Lupski syndrome; SD, segmental duplication; SMS, Smith-Magenis syndrome; SNP, single nucleotide polymorphism
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
