未登录Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria (vol 74, pg 258, 2019)
Nykamp, Keith; Anderson, Michael; Powers, Martin; Garcia, John; Herrera, Blanca; Ho, Yuan-Yuan; Kobayashi, Yuya; Patil, Nila; Thusberg, Janita; Westbrook, Marjorie; Topper, Scott; Aguilar, Sienna; Aradhya, Swaroop; Beltran, Daniel; Bunker, Brandon; Daly, Amy; Deucher, Anne; Ekstein, Tali; Entezam, Ali; Erhard, Karl; Esplin, Ed; Fulbright, Jennifer; Fuller, Amy; Gibson, Kristen McDonald; Hambuch, Tina; Harte, Rachel; Hartshorne, Christy; Haverfield, Eden; Heidari, Nastaran; Hogue, Michelle; Iacoboni, Daniela; Johnson, Britt; Kang, Hio Chung; Lewis, Rachel; Martin, Shiloh; McCalmon, Sarah; Michalski, Scott; Morgan, Cindy; Murillo, Laura; Nicolosi, Piper; Ouyang, Karen; Pardo, Carolina; Quintana, Rita; Rabideau, Marina; Riethmaier, Darlene; Stafford, Amanda; Tahiliani, Jackie; Tan, Chris; Taylor, S. Paige; Wang, Shu-Huei; White, Hannah; Wilson, Ian; Winder, Tom; Zeman, Michelle K. .png)
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收藏Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteriaSherloc: acmg-amp变体分类标准的综合改进Nykamp, Keith; Anderson, Michael; Powers, Martin; Garcia, John; Herrera, Blanca; Ho, Yuan-Yuan; Kobayashi, Yuya; Patil, Nila; Thusberg, Janita; Westbrook, Marjorie; Topper, Scott 分享 收藏 Deep sequencing multi-gene panel analysis is a useful first-tier test with a high diagnostic yield and broad mutation spectrum detection in childhood epilepsyAradhya, S.; Patil, N.; Truty, R.; Riethmaier, D.; Elias, L.; Entezam, A.; Fuller, A.; Hambuch, T.; Hogue, M.; Khouzam, A.; Kobayashi, Y.; Lewis, R.; Nykamp, K.; Rabideau, M.; Westbrook, J.; Zeman, M.; Nussbaum, R. 分享 收藏 Fine-scale recombination patterns differ between chimpanzees and humans (vol 37, pg 429, 2005)Ptak, SE; Hinds, DA; Koehler, K; Nickel, B; Patil, N; Ballinger, DG; Przeworski, M; Frazer, KA; Pääbo, S 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Genome-wide detection of allelic imbalance using human SNPs and high-density DNA arraysMei, R; Galipeau, PC; Prass, C; Berno, A; Ghandour, G; Patil, N; Wolff, RK; Chee, MS; Reid, BJ; Lockhart, DJ 分享 收藏 Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouseLindblad-Toh, K; Winchester, E; Daly, MJ; Wang, DG; Hirschhorn, JN; Laviolette, JP; Ardlie, K; Reich, DE; Robinson, E; Sklar, P; Shah, N; Thomas, D; Fan, JB; Gingeras, T; Warrington, J; Patil, N; Hudson, TJ; Lander, ES 分享 收藏 Characterization of single-nucleotide polymorphisms in coding regions of human genes人类基因编码区中单核苷酸多态性的表征Cargill, M; Altshuler, D; Ireland, J; Sklar, P; Ardlie, K; Patil, N; Lane, CR; Lim, EP; Kalyanaraman, N; Nemesh, J; Ziaugra, L; Friedland, L; Rolfe, A; Warrington, J; Lipshutz, R; Daley, GQ; Lander, ES 分享 收藏 分享 收藏 分享 收藏 
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