Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
Hiatt SM, Lawlor JM, 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 AC, Korf BR, Schmutz J, Grimwood J, Cooper GM.
Hiatt SM, et al. Among authors: lopez ma.
Genome Res. 2024 Sep 19:gr.279227.124. doi: 10.1101/gr.279227.124. Online ahead of print.
Genome Res. 2024.
PMID: 39299904