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Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Reddi HV, Wand H, Funke B, Zimmermann MT, Lebo MS, Qian E, Shirts BH, Zou YS, Zhang BM, Rose NC, Abu-El-Haija A; ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net. Reddi HV, et al. Among authors: lebo ms. Genet Med. 2023 May;25(5):100804. doi: 10.1016/j.gim.2023.100804. Epub 2023 Mar 27. Genet Med. 2023. PMID: 36971772 Free article. No abstract available.
The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine.
Vassy JL, Lautenbach DM, McLaughlin HM, Kong SW, Christensen KD, Krier J, Kohane IS, Feuerman LZ, Blumenthal-Barby J, Roberts JS, Lehmann LS, Ho CY, Ubel PA, MacRae CA, Seidman CE, Murray MF, McGuire AL, Rehm HL, Green RC; MedSeq Project. Vassy JL, et al. Trials. 2014 Mar 20;15:85. doi: 10.1186/1745-6215-15-85. Trials. 2014. PMID: 24645908 Free PMC article. Clinical Trial.
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL. Alfares AA, et al. Among authors: lebo ms. Genet Med. 2015 Nov;17(11):880-8. doi: 10.1038/gim.2014.205. Epub 2015 Jan 22. Genet Med. 2015. PMID: 25611685 Free article.
CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL. Alfares AA, et al. Among authors: lebo ms. Genet Med. 2015 Apr;17(4):319. doi: 10.1038/gim.2015.16. Genet Med. 2015. PMID: 25835197 Free article.
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.
120 results