Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data
Rick M Tankard, Mark E Bennett, Peter Degorski, Martin B Delatycki, Paul J Lockhart, Melanie Bahlo
The American Journal of Human Genetics | CELL PRESS | Published : 2018
Awarded by Australian National Health and Medical Research Council (NHMRC) Career Development Award Level 2
Awarded by NHMRC
Awarded by NHMRC Senior Research Fellowship
We would like to thank Egor Dolzhenko and Michael Eberle (Illumina), who produced the STR specification files for Expansion-Hunter and who facilitated access to the dataset EGA00001003562 from the European Genome-Phenome Archive. We thank Leslie Burnett, Ben Lundie, Katie Ayres, and Andrew Sinclair for granting access to control datasets. We also thank Kate Pope and Greta Gillies for assistance with recruitment and sample preparation. R.M.T. was supported by an Australian Postgraduate Award and funding from the Edith Moffat fund. P.J.L. was supported by the Australian National Health and Medical Research Council (NHMRC) Career Development Award Level 2 (GNT1032364). M.B. was supported by an NHMRC Program Grant (GNT1054618) and an NHMRC Senior Research Fellowship (GNT1102971). This work was supported by the Victorian Government's Operational Infrastructure Support Program and the NHMRC Independent Research Institute Infrastructure Support Scheme (IRIISS).