未登录Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes
Landrith, Tyler; Li, Bing; Cass, Ashley A.; Conner, Blair R.; LaDuca, Holly; McKenna, Danielle B.; Maxwell, Kara N.; Domchek, Susan; Morman, Nichole A.; Heinlen, Christopher; Wham, Deborah; Koptiuch, Cathryn; Vagher, Jennie; Rivera, Ragene; Bunnell, Ann; Patel, Gayle; Geurts, Jennifer L.; Depas, Morgan M.; Gaonkar, Shraddha; Pirzadeh-Miller, Sara; Krukenberg, Rebekah; Seidel, Meredith; Pilarski, Robert; Farmer, Meagan; Pyrtel, Khateriaa; Milliron, Kara; Lee, John; Hoodfar, Elizabeth; Nathan, Deepika; Ganzak, Amanda C.; Wu, Sitao; Vuong, Huy; Xu, Dong; Arulmoli, Aarani; Parra, Melissa; Hoang, Lily; Molparia, Bhuvan; Fennessy, Michele; Fox, Susanne; Charpentier, Sinead; Burdette, Julia; Pesaran, Tina; Profato, Jessica; Smith, Brandon; Haynes, Ginger; Dalton, Emily; Crandall, Joy Rae-Radecki; Baxter, Ruth; Lu, Hsiao-Mei; Tippin-Davis, Brigette; Elliott, Aaron; Chao, Elizabeth; Karam, Rachid .png)
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收藏Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing使用目标捕获的下一代测序数据进行基因诊断测试来检测结构变异Mu, Wenbo; Li, Bing; Wu, Sitao; Chen, Jefferey; Sain, Divya; Xu, Dong; Black, Mary Helen; Karam, Rachid; Gillespie, Katrina; Hagman, Kelly D. Farwell; Guidugli, Lucia; Pronold, Melissa; Elliott, Aaron; Lu, Hsiao-Mei 分享 收藏 DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes (vol 21, pg 683, 2018)Richardson, Marcy E.; Chong, Hansook; Mu, Wenbo; Conner, Blair R.; Hsuan, Vickie; Willett, Sara; Lam, Stephanie; Tsai, Pei; Pesaran, Tina; Chamberlin, Adam C.; Park, Min-Sun; Gray, Phillip; Karam, Rachid; Elliott, Aaron 分享 收藏 DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genesRichardson, Marcy E.; Chong, Hansook; Mu, Wenbo; Conner, Blair R.; Hsuan, Vickie; Willett, Sara; Lam, Stephanie; Tsai, Pei; Pesaran, Tina; Chamberlin, Adam C.; Park, Min-Sun; Gray, Phillip; Karam, Rachid; Elliott, Aaron 分享 收藏 Somatic TP53 variants frequently confound germ-line testing results体细胞TP53变异经常混淆种系检测结果Weitzel, Jeffrey N.; Chao, Elizabeth C.; Nehoray, Bita; Van Tongeren, Lily R.; LaDuca, Holly; Blazer, Kathleen R.; Slavin, Thomas; Pesaran, Tina; Rybak, Christina; Solomon, Ilana; Niell-Swiller, Mariana; Dolinsky, Jill S.; Castillo, Danielle; Elliott, Aaron; Gau, Chia-Ling; Speare, Virginia; Jasperson, Kory 分享 收藏 Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing AssayFarber-Katz, Suzette; Hsuan, Vickie; Wu, Sitao; Landrith, Tyler; Vuong, Huy; Xu, Dong; Li, Bing; Hoo, Jayne; Lam, Stephanie; Nashed, Sarah; Toppmeyer, Deborah; Gray, Phillip; Haynes, Ginger; Lu, Hsiao-Mei; Elliott, Aaron; Davis, Brigette Tippin; Karam, Rachid 分享 收藏 分享 收藏 分享 收藏 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditionsFarwell, Kelly D.; Shahmirzadi, Layla; El-Khechen, Dima; Powis, Zoee; Chao, Elizabeth C.; Davis, Brigette Tippin; Baxter, Ruth M.; Zeng, Wenqi; Mroske, Cameron; Parra, Melissa C.; Gandomi, Stephanie K.; Lu, Ira; Li, Xiang; Lu, Hong; Lu, Hsiao-Mei; Salvador, David; Ruble, David; Lao, Monica; Fischbach, Soren; Wen, Jennifer; Lee, Shela; Elliott, Aaron; Dunlop, Charles L. M.; Tang, Sha 分享 收藏 分享 收藏 分享 收藏 
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