Open AccessIdentifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing
Author(s) -
Deborah Ritter,
Katherine Haines,
Hannah Cheung,
Caleb Davis,
Ching C. Lau,
Jonathan S. Berg,
Chester Brown,
Patrick A. Thompson,
Richard A. Gibbs,
David A. Wheeler,
Sharon E. Plon
Publication year - 2015
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1038/gim.2014.189
Subject(s) - hnf1a , chromosomal translocation , copy number variation , breakpoint , genetics , gene , biology , phenotype , whole genome sequencing , genome
We applied whole-genome sequencing (WGS) to children diagnosed with neoplasms and found to carry apparently balanced constitutional translocations to discover novel genic disruptions.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom