Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders.

Victor Murcia PienkowskiMarzena KucharczykMarlena MłynekKrzysztof SzczalubaMałgorzata RydzaniczBarbara PoszewieckaAgata SkórkaMaciej SykulskiAnna BiernackaAgnieszka Anna KoppoluRenata PosmykAnna WalczakJoanna KosińskaPaweł KrajewskiJennifer CastanedaEwa ObersztynElżbieta JurkiewiczRobert ŚmigielAnna GambinKrystyna ChrzanowskaMałgorzata Krajewska-WalasekPloski Rafal

Published in: Journal of medical genetics (2018)

SGMPS in symptomatic carriers of BCTs is a powerful approach to delineate novel human gene-disease associations.

Keyphrases

endothelial cells
induced pluripotent stem cells
genome wide
transcription factor
high density