Boxun’s paper on transposon insertions causing Ataxia Telangiectasia, a rare disease in children got accepted at AJHG!

It is a first systematic study that reports the contribution of transposon insertions in a rare disease through a thorough WGS analysis and characterization of the insertional effects on RNA, especially on splicing. Furthermore it demonstrated a potential therapeutic intervention using ASOs for some insertions. Many congrats to Boxun!