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Robust scoring of selective drug responses for patient-tailored therapy selection.
Nat Protoc. 2024 Jan;19(1):60-82. doi: 10.1038/s41596-023-00903-x. Epub 2023 Nov 23.
Nat Protoc. 2024.
PMID: 37996540
Review.
Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield.
Lehtonen J, Sulonen AM, Almusa H, Lehtokari VL, Johari M, Palva A, Hakonen AH, Wartiovaara K, Lehesjoki AE, Udd B, Wallgren-Pettersson C, Pelin K, Savarese M, Saarela J.
Lehtonen J, et al.
Sci Rep. 2024 Feb 21;14(1):4306. doi: 10.1038/s41598-024-54866-4.
Sci Rep. 2024.
PMID: 38383731
Free PMC article.
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