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APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC, de la Hoya M, Wiggins GAR, Lindy A, Vincent LM, Parsons MT, Canson DM, Bis-Brewer D, Cass A, Tchourbanov A, Zimmermann H, Byrne AB, Pesaran T, Karam R, Harrison S, Spurdle AB. Walker LC, et al. Among authors: harrison s. medRxiv [Preprint]. 2023 Feb 26:2023.02.24.23286431. doi: 10.1101/2023.02.24.23286431. medRxiv. 2023. PMID: 36865205 Free PMC article. Updated. Preprint.
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data.
Singer-Berk M, Gudmundsson S, Baxter S, Seaby EG, England E, Wood JC, Son RG, Watts NA, Karczewski KJ, Harrison SM, MacArthur DG, Rehm HL, O'Donnell-Luria A. Singer-Berk M, et al. Among authors: harrison sm. medRxiv [Preprint]. 2023 Mar 9:2023.03.08.23286955. doi: 10.1101/2023.03.08.23286955. medRxiv. 2023. PMID: 36945502 Free PMC article. Updated. Preprint.
ClinGen--the Clinical Genome Resource.
Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen. Rehm HL, et al. N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261. Epub 2015 May 27. N Engl J Med. 2015. PMID: 26014595 Free PMC article.
Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E; eMERGE III consortium; Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM. Hu J, et al. BMC Res Notes. 2024 Mar 3;17(1):62. doi: 10.1186/s13104-024-06723-w. BMC Res Notes. 2024. PMID: 38433186 Free PMC article.
Evaluation of Neoplasia, Treatments, and Survival in Lizard Species.
Willig F, Torpy FJ, Harrison SH, Duke EG, Troan B, Boddy AM, Abegglen LM, Harrison TM. Willig F, et al. Among authors: harrison sh. Animals (Basel). 2024 May 7;14(10):1395. doi: 10.3390/ani14101395. Animals (Basel). 2024. PMID: 38791614 Free PMC article.
Association of back pain with all-cause and cause-specific mortality among older men: a cohort study.
Roseen EJ, McNaughton DT, Harrison S, Downie AS, Øverås CK, Nim CG, Jenkins HJ, Young JJ, Hartvigsen J, Stone KL, Ensrud KE, Lee S, Cawthon PM, Fink HA; Osteoporotic Fractures in Men (MrOS) research group. Roseen EJ, et al. Among authors: harrison s. Pain Med. 2024 May 13:pnae040. doi: 10.1093/pm/pnae040. Online ahead of print. Pain Med. 2024. PMID: 38741219
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