檢索結果 - Baheti, Saurabh

Whole Exome Sequencing Among 26 Patients With Indeterminate Acute Liver Failure: Response to Letter to the Editor 由 Rakela, Jorge, Dehankar, Mrunal K., Baheti, Saurabh

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From Days to Hours: Reporting Clinically Actionable Variants from Whole Genome Sequencing 由 Middha, Sumit, Baheti, Saurabh, Hart, Steven N., Kocher, Jean-Pierre A.

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Targeted alignment and end repair elimination increase alignment and methylation measure accuracy for reduced representation bisulfite sequencing data 由 Baheti, Saurabh, Kanwar, Rahul, Goelzenleuchter, Meike, Kocher, Jean-Pierre A., Beutler, Andreas S., Sun, Zhifu

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Whole Exome Sequencing Among 26 Patients With Indeterminate Acute Liver Failure: A Pilot Study 由 Rakela, Jorge, Rule, Jody, Ganger, Daniel, Lau, Julie, Cunningham, Julie, Dehankar, Mrunal, Baheti, Saurabh, Lee, William M.

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SoftSearch: Integration of Multiple Sequence Features to Identify Breakpoints of Structural Variations 由 Hart, Steven N., Sarangi, Vivekananda, Moore, Raymond, Baheti, Saurabh, Bhavsar, Jaysheel D., Couch, Fergus J., Kocher, Jean-Pierre A.

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Aberrant signature methylome by DNMT1 hot spot mutation in hereditary sensory and autonomic neuropathy 1E 由 Sun, Zhifu, Wu, Yanhong, Ordog, Tamas, Baheti, Saurabh, Nie, Jinfu, Duan, Xiaohui, Hojo, Kaori, Kocher, Jean-Pierre, Dyck, Peter J, Klein, Christopher J

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SAAP-RRBS: streamlined analysis and annotation pipeline for reduced representation bisulfite sequencing 由 Sun, Zhifu, Baheti, Saurabh, Middha, Sumit, Kanwar, Rahul, Zhang, Yuji, Li, Xing, Beutler, Andreas S., Klee, Eric, Asmann, Yan W., Thompson, E. Aubrey, Kocher, Jean-Pierre A.

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Perinatal Nutritional Reprogramming of the Epigenome Promotes Subsequent Development of Nonalcoholic Steatohepatitis 由 Gutierrez Sanchez, Luz Helena, Tomita, Kyoko, Guo, Qianqian, Furuta, Kunimaro, Alhuwaish, Husam, Hirsova, Petra, Baheti, Saurabh, Alver, Bonnie, Hlady, Ryan, Robertson, Keith D., Ibrahim, Samar H.

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Comprehensive Assessment of Genetic Variants Within TCF4 in Fuchs' Endothelial Corneal Dystrophy 由 Wieben, Eric D., Aleff, Ross A., Eckloff, Bruce W., Atkinson, Elizabeth J., Baheti, Saurabh, Middha, Sumit, Brown, William L., Patel, Sanjay V., Kocher, Jean-Pierre A., Baratz, Keith H.

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Comprehensively Evaluating cis-Regulatory Variation in the Human Prostate Transcriptome by Using Gene-Level Allele-Specific Expression 由 Larson, Nicholas B., McDonnell, Shannon, French, Amy J., Fogarty, Zach, Cheville, John, Middha, Sumit, Riska, Shaun, Baheti, Saurabh, Nair, Asha A., Wang, Liang, Schaid, Daniel J., Thibodeau, Stephen N.

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HGT-ID: an efficient and sensitive workflow to detect human-viral insertion sites using next-generation sequencing data 由 Baheti, Saurabh, Tang, Xiaojia, O’Brien, Daniel R., Chia, Nicholas, Roberts, Lewis R., Nelson, Heidi, Boughey, Judy C., Wang, Liewei, Goetz, Matthew P., Kocher, Jean-Pierre A., Kalari, Krishna R.

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Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy 由 Wang, Wei, Wang, Chen, Dawson, D. Brian, Thorland, Erik C., Lundquist, Patrick A., Eckloff, Bruce W., Wu, Yanhong, Baheti, Saurabh, Evans, Jared M., Scherer, Steven S., Dyck, Peter J., Klein, Christopher J.

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DNA methylation patterns in human iPSC-derived sensory neuronal differentiation 由 Ankam, Soneela, Rovini, Amandine, Baheti, Saurabh, Hrstka, Ron, Wu, Yanhong, Schmidt, Kiley, Wang, Hailong, Madigan, Nicolas, Koenig, Lena-Sophie, Stelzig, Kimberly, Resch, Zachary, Klein, Christopher J., Sun, Zhifu, Staff, Nathan P.

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RVboost: RNA-seq variants prioritization using a boosting method 由 Wang, Chen, Davila, Jaime I., Baheti, Saurabh, Bhagwate, Aditya V., Wang, Xue, Kocher, Jean-Pierre A., Slager, Susan L., Feldman, Andrew L., Novak, Anne J., Cerhan, James R., Thompson, E. Aubrey, Asmann, Yan W.

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New DNA Methylation Markers for Pancreatic Cancer: Discovery, Tissue Validation, and Pilot Testing in Pancreatic Juice 由 Kisiel, John B., Raimondo, Massimo, Taylor, William R., Yab, Tracy C., Mahoney, Douglas W., Sun, Zhifu, Middha, Sumit, Baheti, Saurabh, Zou, Hongzhi, Smyrk, Thomas C., Boardman, Lisa A., Petersen, Gloria M., Ahlquist, David A.

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Network-directed cis-mediator analysis of normal prostate tissue expression profiles reveals downstream regulatory associations of prostate cancer susceptibility loci 由 Larson, Nicholas B., McDonnell, Shannon K., Fogarty, Zach, Larson, Melissa C., Cheville, John, Riska, Shaun, Baheti, Saurabh, Weber, Alexandra M., Nair, Asha A., Wang, Liang, O’Brien, Daniel, Davila, Jaime, Schaid, Daniel J., Thibodeau, Stephen N.

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TREAT: a bioinformatics tool for variant annotations and visualizations in targeted and exome sequencing data 由 Asmann, Yan W., Middha, Sumit, Hossain, Asif, Baheti, Saurabh, Li, Ying, Chai, High-Seng, Sun, Zhifu, Duffy, Patrick H., Hadad, Ahmed A., Nair, Asha, Liu, Xiaoyu, Zhang, Yuji, Klee, Eric W., Kalari, Krishna R., Kocher, Jean-Pierre A.

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data 由 Tang, Xiaojia, Baheti, Saurabh, Shameer, Khader, Thompson, Kevin J., Wills, Quin, Niu, Nifang, Holcomb, Ilona N., Boutet, Stephane C., Ramakrishnan, Ramesh, Kachergus, Jennifer M., Kocher, Jean-Pierre A., Weinshilboum, Richard M., Wang, Liewei, Thompson, E. Aubrey, Kalari, Krishna R.

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Fine-mapping of the non-coding variation driving the Caucasian LRRK2 GWAS signal in Parkinson’s disease 由 Heckman, Michael G., Labbé, Catherine, Kolicheski, Ana L., Soto-Beasley, Alexandra I., Walton, Ronald L., Valentino, Rebecca R., Vargas, Emily R., Johnson, Patrick W., Baheti, Saurabh, Sarangi, Vivekananda, Ren, Yingxue, Uitti, Ryan J., Wszolek, Zbigniew K., Ross, Owen A.

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Recommendations for performance optimizations when using GATK3.8 and GATK4 由 Heldenbrand, Jacob R, Baheti, Saurabh, Bockol, Matthew A, Drucker, Travis M, Hart, Steven N, Hudson, Matthew E, Iyer, Ravishankar K, Kalmbach, Michael T, Kendig, Katherine I, Klee, Eric W, Mattson, Nathan R, Wieben, Eric D, Wiepert, Mathieu, Wildman, Derek E, Mainzer, Liudmila S

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