Ontology highlight
ABSTRACT:
SUBMITTER: Zepeda-Mendoza CJ
PROVIDER: S-EPMC5544382 | biostudies-literature | 2017 Aug
REPOSITORIES: biostudies-literature
Zepeda-Mendoza Cinthya J CJ Ibn-Salem Jonas J Kammin Tammy T Harris David J DJ Rita Debra D Gripp Karen W KW MacKenzie Jennifer J JJ Gropman Andrea A Graham Brett B Shaheen Ranad R Alkuraya Fowzan S FS Brasington Campbell K CK Spence Edward J EJ Masser-Frye Diane D Bird Lynne M LM Spiegel Erica E Sparkes Rebecca L RL Ordulu Zehra Z Talkowski Michael E ME Andrade-Navarro Miguel A MA Robinson Peter N PN Morton Cynthia C CC
American journal of human genetics 20170720 2
Interpretation of variants of uncertain significance, especially chromosomal rearrangements in non-coding regions of the human genome, remains one of the biggest challenges in modern molecular diagnosis. To improve our understanding and interpretation of such variants, we used high-resolution three-dimensional chromosomal structural data and transcriptional regulatory information to predict position effects and their association with pathogenic phenotypes in 17 subjects with apparently balanced ...[more]