Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
Hiatt SM, Lawlor JMJ, Handley LH, Latner DR, Bonnstetter ZT, Finnila CR, Thompson ML, Boston LB, Williams M, Rodriguez Nunez I, Jenkins J, Kelley WV, Bebin EM, Lopez MA, Hurst ACE, Korf BR, Schmutz J, Grimwood J, Cooper GM.
Hiatt SM, et al. Among authors: lawlor jmj.
Genome Res. 2024 Nov 20;34(11):1747-1762. doi: 10.1101/gr.279227.124.
Genome Res. 2024.
PMID: 39299904