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AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature.
Birgmeier J, Haeussler M, Deisseroth CA, Steinberg EH, Jagadeesh KA, Ratner AJ, Guturu H, Wenger AM, Diekhans ME, Stenson PD, Cooper DN, Ré C, Beggs AH, Bernstein JA, Bejerano G. Birgmeier J, et al. Among authors: wenger am. Sci Transl Med. 2020 May 20;12(544):eaau9113. doi: 10.1126/scitranslmed.aau9113. Sci Transl Med. 2020. PMID: 32434849 Free PMC article.
GREAT improves functional interpretation of cis-regulatory regions.
McLean CY, Bristor D, Hiller M, Clarke SL, Schaar BT, Lowe CB, Wenger AM, Bejerano G. McLean CY, et al. Among authors: wenger am. Nat Biotechnol. 2010 May;28(5):495-501. doi: 10.1038/nbt.1630. Epub 2010 May 2. Nat Biotechnol. 2010. PMID: 20436461 Free PMC article.
Human-specific loss of regulatory DNA and the evolution of human-specific traits.
McLean CY, Reno PL, Pollen AA, Bassan AI, Capellini TD, Guenther C, Indjeian VB, Lim X, Menke DB, Schaar BT, Wenger AM, Bejerano G, Kingsley DM. McLean CY, et al. Among authors: wenger am. Nature. 2011 Mar 10;471(7337):216-9. doi: 10.1038/nature09774. Nature. 2011. PMID: 21390129 Free PMC article.
52 results