Search

Your search keyword '"Ren, Luyao"' showing total 7 results
Start Over Author "Ren, Luyao" Publisher frederick natl lab canc res, canc res technol program, sequencing facil, frederick, md usa.
7 results on '"Ren, Luyao"'

1. Whole genome and exome sequencing reference datasets from a multi-center and cross-platform benchmark study

Author

Zhao, Yongmei, Fang, Li Tai, Shen, Tsai-wei, Choudhari, Sulbha, Talsania, Keyur, Chen, Xiongfong, Shetty, Jyoti, Kriga, Yuliya, Tran, Bao, Zhu, Bin, Chen, Zhong, Chen, Wanqiu, Wang, Charles, Jaeger, Erich, Meerzaman, Daoud, Lu, Charles, Idler, Kenneth, Ren, Luyao, Zheng, Yuanting, Shi, Leming, Petitjean, Virginie, Sultan, Marc, Hung, Tiffany, Peters, Eric, Drabek, Jiri, Vojta, Petr, Maestro, Roberta, Gasparotto, Daniela, Koks, Sulev, Reimann, Ene, Scherer, Andreas, Nordlund, Jessica, Liljedahl, Ulrika, Foox, Jonathan, Mason, Christopher E., Xiao, Chunlin, Hong, Huixiao, Xiao, Wenming, Zhao, Yongmei, Fang, Li Tai, Shen, Tsai-wei, Choudhari, Sulbha, Talsania, Keyur, Chen, Xiongfong, Shetty, Jyoti, Kriga, Yuliya, Tran, Bao, Zhu, Bin, Chen, Zhong, Chen, Wanqiu, Wang, Charles, Jaeger, Erich, Meerzaman, Daoud, Lu, Charles, Idler, Kenneth, Ren, Luyao, Zheng, Yuanting, Shi, Leming, Petitjean, Virginie, Sultan, Marc, Hung, Tiffany, Peters, Eric, Drabek, Jiri, Vojta, Petr, Maestro, Roberta, Gasparotto, Daniela, Koks, Sulev, Reimann, Ene, Scherer, Andreas, Nordlund, Jessica, Liljedahl, Ulrika, Foox, Jonathan, Mason, Christopher E., Xiao, Chunlin, Hong, Huixiao, and Xiao, Wenming

Abstract

With the rapid advancement of sequencing technologies, next generation sequencing (NGS) analysis has been widely applied in cancer genomics research. More recently, NGS has been adopted in clinical oncology to advance personalized medicine. Clinical applications of precision oncology require accurate tests that can distinguish tumor-specific mutations from artifacts introduced during NGS processes or data analysis. Therefore, there is an urgent need to develop best practices in cancer mutation detection using NGS and the need for standard reference data sets for systematically measuring accuracy and reproducibility across platforms and methods. Within the SEQC2 consortium context, we established paired tumor-normal reference samples and generated whole-genome (WGS) and whole-exome sequencing (WES) data using sixteen library protocols, seven sequencing platforms at six different centers. We systematically interrogated somatic mutations in the reference samples to identify factors affecting detection reproducibility and accuracy in cancer genomes. These large cross-platform/site WGS and WES datasets using well-characterized reference samples will represent a powerful resource for benchmarking NGS technologies, bioinformatics pipelines, and for the cancer genomics studies.

Published
2021
Full Text
View/download PDF

2. Toward best practice in cancer mutation detection with whole-genome and whole-exome sequencing

Author

Xiao, Wenming, Ren, Luyao, Chen, Zhong, Fang, Li Tai, Zhao, Yongmei, Lack, Justin, Guan, Meijian, Zhu, Bin, Jaeger, Erich, Kerrigan, Liz, Blomquist, Thomas M., Hung, Tiffany, Sultan, Marc, Idler, Kenneth, Lu, Charles, Scherer, Andreas, Kusko, Rebecca, Moos, Malcolm, Xiao, Chunlin, Sherry, Stephen T., Abaan, Ogan D., Chen, Wanqiu, Chen, Xin, Nordlund, Jessica, Liljedahl, Ulrika, Maestro, Roberta, Polano, Maurizio, Drabek, Jiri, Vojta, Petr, Köks, Sulev, Reimann, Ene, Madala, Bindu Swapna, Mercer, Timothy, Miller, Chris, Jacob, Howard, Truong, Tiffany, Moshrefi, Ali, Natarajan, Aparna, Granat, Ana, Schroth, Gary P., Kalamegham, Rasika, Peters, Eric, Petitjean, Virginie, Walton, Ashley, Shen, Tsai-Wei, Talsania, Keyur, Vera, Cristobal Juan, Langenbach, Kurt, de Mars, Maryellen, Hipp, Jennifer A., Willey, James C., Wang, Jing, Shetty, Jyoti, Kriga, Yuliya, Raziuddin, Arati, Tran, Bao, Zheng, Yuanting, Yu, Ying, Cam, Margaret, Jailwala, Parthav, Nguyen, Cu, Meerzaman, Daoud, Chen, Qingrong, Yan, Chunhua, Ernest, Ben, Mehra, Urvashi, Jensen, Roderick, V, Jones, Wendell, Li, Jian-Liang, Papas, Brian N., Pirooznia, Mehdi, Chen, Yun-Ching, Seifuddin, Fayaz, Li, Zhipan, Liu, Xuelu, Resch, Wolfgang, Wang, Jingya, Wu, Leihong, Yavas, Gokhan, Miles, Corey, Ning, Baitang, Tong, Weida, Mason, Christopher E., Donaldson, Eric, Lababidi, Samir, Staudt, Louis M., Tezak, Zivana, Hong, Huixiao, Wang, Charles, Shi, Leming, Xiao, Wenming, Ren, Luyao, Chen, Zhong, Fang, Li Tai, Zhao, Yongmei, Lack, Justin, Guan, Meijian, Zhu, Bin, Jaeger, Erich, Kerrigan, Liz, Blomquist, Thomas M., Hung, Tiffany, Sultan, Marc, Idler, Kenneth, Lu, Charles, Scherer, Andreas, Kusko, Rebecca, Moos, Malcolm, Xiao, Chunlin, Sherry, Stephen T., Abaan, Ogan D., Chen, Wanqiu, Chen, Xin, Nordlund, Jessica, Liljedahl, Ulrika, Maestro, Roberta, Polano, Maurizio, Drabek, Jiri, Vojta, Petr, Köks, Sulev, Reimann, Ene, Madala, Bindu Swapna, Mercer, Timothy, Miller, Chris, Jacob, Howard, Truong, Tiffany, Moshrefi, Ali, Natarajan, Aparna, Granat, Ana, Schroth, Gary P., Kalamegham, Rasika, Peters, Eric, Petitjean, Virginie, Walton, Ashley, Shen, Tsai-Wei, Talsania, Keyur, Vera, Cristobal Juan, Langenbach, Kurt, de Mars, Maryellen, Hipp, Jennifer A., Willey, James C., Wang, Jing, Shetty, Jyoti, Kriga, Yuliya, Raziuddin, Arati, Tran, Bao, Zheng, Yuanting, Yu, Ying, Cam, Margaret, Jailwala, Parthav, Nguyen, Cu, Meerzaman, Daoud, Chen, Qingrong, Yan, Chunhua, Ernest, Ben, Mehra, Urvashi, Jensen, Roderick, V, Jones, Wendell, Li, Jian-Liang, Papas, Brian N., Pirooznia, Mehdi, Chen, Yun-Ching, Seifuddin, Fayaz, Li, Zhipan, Liu, Xuelu, Resch, Wolfgang, Wang, Jingya, Wu, Leihong, Yavas, Gokhan, Miles, Corey, Ning, Baitang, Tong, Weida, Mason, Christopher E., Donaldson, Eric, Lababidi, Samir, Staudt, Louis M., Tezak, Zivana, Hong, Huixiao, Wang, Charles, and Shi, Leming

Abstract

Recommendations are given on optimal read coverage and selection of calling algorithm to maximize the reproducibility of cancer mutation detection in whole-genome or whole-exome sequencing. Clinical applications of precision oncology require accurate tests that can distinguish true cancer-specific mutations from errors introduced at each step of next-generation sequencing (NGS). To date, no bulk sequencing study has addressed the effects of cross-site reproducibility, nor the biological, technical and computational factors that influence variant identification. Here we report a systematic interrogation of somatic mutations in paired tumor-normal cell lines to identify factors affecting detection reproducibility and accuracy at six different centers. Using whole-genome sequencing (WGS) and whole-exome sequencing (WES), we evaluated the reproducibility of different sample types with varying input amount and tumor purity, and multiple library construction protocols, followed by processing with nine bioinformatics pipelines. We found that read coverage and callers affected both WGS and WES reproducibility, but WES performance was influenced by insert fragment size, genomic copy content and the global imbalance score (GIV; G > T/C > A). Finally, taking into account library preparation protocol, tumor content, read coverage and bioinformatics processes concomitantly, we recommend actionable practices to improve the reproducibility and accuracy of NGS experiments for cancer mutation detection.

Published
2021
Full Text
View/download PDF

3. Whole genome and exome sequencing reference datasets from a multi-center and cross-platform benchmark study

Author

Zhao, Yongmei, Fang, Li Tai, Shen, Tsai-wei, Choudhari, Sulbha, Talsania, Keyur, Chen, Xiongfong, Shetty, Jyoti, Kriga, Yuliya, Tran, Bao, Zhu, Bin, Chen, Zhong, Chen, Wanqiu, Wang, Charles, Jaeger, Erich, Meerzaman, Daoud, Lu, Charles, Idler, Kenneth, Ren, Luyao, Zheng, Yuanting, Shi, Leming, Petitjean, Virginie, Sultan, Marc, Hung, Tiffany, Peters, Eric, Drabek, Jiri, Vojta, Petr, Maestro, Roberta, Gasparotto, Daniela, Koks, Sulev, Reimann, Ene, Scherer, Andreas, Nordlund, Jessica, Liljedahl, Ulrika, Foox, Jonathan, Mason, Christopher E., Xiao, Chunlin, Hong, Huixiao, Xiao, Wenming, Zhao, Yongmei, Fang, Li Tai, Shen, Tsai-wei, Choudhari, Sulbha, Talsania, Keyur, Chen, Xiongfong, Shetty, Jyoti, Kriga, Yuliya, Tran, Bao, Zhu, Bin, Chen, Zhong, Chen, Wanqiu, Wang, Charles, Jaeger, Erich, Meerzaman, Daoud, Lu, Charles, Idler, Kenneth, Ren, Luyao, Zheng, Yuanting, Shi, Leming, Petitjean, Virginie, Sultan, Marc, Hung, Tiffany, Peters, Eric, Drabek, Jiri, Vojta, Petr, Maestro, Roberta, Gasparotto, Daniela, Koks, Sulev, Reimann, Ene, Scherer, Andreas, Nordlund, Jessica, Liljedahl, Ulrika, Foox, Jonathan, Mason, Christopher E., Xiao, Chunlin, Hong, Huixiao, and Xiao, Wenming

Abstract

With the rapid advancement of sequencing technologies, next generation sequencing (NGS) analysis has been widely applied in cancer genomics research. More recently, NGS has been adopted in clinical oncology to advance personalized medicine. Clinical applications of precision oncology require accurate tests that can distinguish tumor-specific mutations from artifacts introduced during NGS processes or data analysis. Therefore, there is an urgent need to develop best practices in cancer mutation detection using NGS and the need for standard reference data sets for systematically measuring accuracy and reproducibility across platforms and methods. Within the SEQC2 consortium context, we established paired tumor-normal reference samples and generated whole-genome (WGS) and whole-exome sequencing (WES) data using sixteen library protocols, seven sequencing platforms at six different centers. We systematically interrogated somatic mutations in the reference samples to identify factors affecting detection reproducibility and accuracy in cancer genomes. These large cross-platform/site WGS and WES datasets using well-characterized reference samples will represent a powerful resource for benchmarking NGS technologies, bioinformatics pipelines, and for the cancer genomics studies.

Published
2021
Full Text
View/download PDF

4. Whole genome and exome sequencing reference datasets from a multi-center and cross-platform benchmark study

Author

Zhao, Yongmei, Fang, Li Tai, Shen, Tsai-wei, Choudhari, Sulbha, Talsania, Keyur, Chen, Xiongfong, Shetty, Jyoti, Kriga, Yuliya, Tran, Bao, Zhu, Bin, Chen, Zhong, Chen, Wanqiu, Wang, Charles, Jaeger, Erich, Meerzaman, Daoud, Lu, Charles, Idler, Kenneth, Ren, Luyao, Zheng, Yuanting, Shi, Leming, Petitjean, Virginie, Sultan, Marc, Hung, Tiffany, Peters, Eric, Drabek, Jiri, Vojta, Petr, Maestro, Roberta, Gasparotto, Daniela, Koks, Sulev, Reimann, Ene, Scherer, Andreas, Nordlund, Jessica, Liljedahl, Ulrika, Foox, Jonathan, Mason, Christopher E., Xiao, Chunlin, Hong, Huixiao, Xiao, Wenming, Zhao, Yongmei, Fang, Li Tai, Shen, Tsai-wei, Choudhari, Sulbha, Talsania, Keyur, Chen, Xiongfong, Shetty, Jyoti, Kriga, Yuliya, Tran, Bao, Zhu, Bin, Chen, Zhong, Chen, Wanqiu, Wang, Charles, Jaeger, Erich, Meerzaman, Daoud, Lu, Charles, Idler, Kenneth, Ren, Luyao, Zheng, Yuanting, Shi, Leming, Petitjean, Virginie, Sultan, Marc, Hung, Tiffany, Peters, Eric, Drabek, Jiri, Vojta, Petr, Maestro, Roberta, Gasparotto, Daniela, Koks, Sulev, Reimann, Ene, Scherer, Andreas, Nordlund, Jessica, Liljedahl, Ulrika, Foox, Jonathan, Mason, Christopher E., Xiao, Chunlin, Hong, Huixiao, and Xiao, Wenming

Abstract

With the rapid advancement of sequencing technologies, next generation sequencing (NGS) analysis has been widely applied in cancer genomics research. More recently, NGS has been adopted in clinical oncology to advance personalized medicine. Clinical applications of precision oncology require accurate tests that can distinguish tumor-specific mutations from artifacts introduced during NGS processes or data analysis. Therefore, there is an urgent need to develop best practices in cancer mutation detection using NGS and the need for standard reference data sets for systematically measuring accuracy and reproducibility across platforms and methods. Within the SEQC2 consortium context, we established paired tumor-normal reference samples and generated whole-genome (WGS) and whole-exome sequencing (WES) data using sixteen library protocols, seven sequencing platforms at six different centers. We systematically interrogated somatic mutations in the reference samples to identify factors affecting detection reproducibility and accuracy in cancer genomes. These large cross-platform/site WGS and WES datasets using well-characterized reference samples will represent a powerful resource for benchmarking NGS technologies, bioinformatics pipelines, and for the cancer genomics studies.

Published
2021
Full Text
View/download PDF

5. Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing

Author

Fang, Li Tai, Zhu, Bin, Zhao, Yongmei, Chen, Wanqiu, Yang, Zhaowei, Kerrigan, Liz, Langenbach, Kurt, de Mars, Maryellen, Lu, Charles, Idler, Kenneth, Jacob, Howard, Zheng, Yuanting, Ren, Luyao, Yu, Ying, Jaeger, Erich, Schroth, Gary P., Abaan, Ogan D., Talsania, Keyur, Lack, Justin, Shen, Tsai-Wei, Chen, Zhong, Stanbouly, Seta, Tran, Bao, Shetty, Jyoti, Kriga, Yuliya, Meerzaman, Daoud, Nguyen, Cu, Petitjean, Virginie, Sultan, Marc, Cam, Margaret, Mehta, Monika, Hung, Tiffany, Peters, Eric, Kalamegham, Rasika, Sahraeian, Sayed Mohammad Ebrahim, Mohiyuddin, Marghoob, Guo, Yunfei, Yao, Lijing, Song, Lei, Lam, Hugo Y. K., Drabek, Jiri, Vojta, Petr, Maestro, Roberta, Gasparotto, Daniela, Koks, Sulev, Reimann, Ene, Scherer, Andreas, Nordlund, Jessica, Liljedahl, Ulrika, Jensen, Roderick, V, Pirooznia, Mehdi, Li, Zhipan, Xiao, Chunlin, Sherry, Stephen T., Kusko, Rebecca, Moos, Malcolm, Donaldson, Eric, Tezak, Zivana, Ning, Baitang, Tong, Weida, Li, Jing, Duerken-Hughes, Penelope, Catalanotti, Claudia, Maheshwari, Shamoni, Shuga, Joe, Liang, Winnie S., Keats, Jonathan, Adkins, Jonathan, Tassone, Erica, Zismann, Victoria, McDaniel, Timothy, Trent, Jeffrey, Foox, Jonathan, Butler, Daniel, Mason, Christopher E., Hong, Huixiao, Shi, Leming, Wang, Charles, Xiao, Wenming, Fang, Li Tai, Zhu, Bin, Zhao, Yongmei, Chen, Wanqiu, Yang, Zhaowei, Kerrigan, Liz, Langenbach, Kurt, de Mars, Maryellen, Lu, Charles, Idler, Kenneth, Jacob, Howard, Zheng, Yuanting, Ren, Luyao, Yu, Ying, Jaeger, Erich, Schroth, Gary P., Abaan, Ogan D., Talsania, Keyur, Lack, Justin, Shen, Tsai-Wei, Chen, Zhong, Stanbouly, Seta, Tran, Bao, Shetty, Jyoti, Kriga, Yuliya, Meerzaman, Daoud, Nguyen, Cu, Petitjean, Virginie, Sultan, Marc, Cam, Margaret, Mehta, Monika, Hung, Tiffany, Peters, Eric, Kalamegham, Rasika, Sahraeian, Sayed Mohammad Ebrahim, Mohiyuddin, Marghoob, Guo, Yunfei, Yao, Lijing, Song, Lei, Lam, Hugo Y. K., Drabek, Jiri, Vojta, Petr, Maestro, Roberta, Gasparotto, Daniela, Koks, Sulev, Reimann, Ene, Scherer, Andreas, Nordlund, Jessica, Liljedahl, Ulrika, Jensen, Roderick, V, Pirooznia, Mehdi, Li, Zhipan, Xiao, Chunlin, Sherry, Stephen T., Kusko, Rebecca, Moos, Malcolm, Donaldson, Eric, Tezak, Zivana, Ning, Baitang, Tong, Weida, Li, Jing, Duerken-Hughes, Penelope, Catalanotti, Claudia, Maheshwari, Shamoni, Shuga, Joe, Liang, Winnie S., Keats, Jonathan, Adkins, Jonathan, Tassone, Erica, Zismann, Victoria, McDaniel, Timothy, Trent, Jeffrey, Foox, Jonathan, Butler, Daniel, Mason, Christopher E., Hong, Huixiao, Shi, Leming, Wang, Charles, and Xiao, Wenming

Abstract

Tumor-normal paired DNA samples from a breast cancer cell line and a matched lymphoblastoid cell line enable calibration of clinical sequencing pipelines and benchmarking 'tumor-only' or 'matched tumor-normal' analyses. The lack of samples for generating standardized DNA datasets for setting up a sequencing pipeline or benchmarking the performance of different algorithms limits the implementation and uptake of cancer genomics. Here, we describe reference call sets obtained from paired tumor-normal genomic DNA (gDNA) samples derived from a breast cancer cell line-which is highly heterogeneous, with an aneuploid genome, and enriched in somatic alterations-and a matched lymphoblastoid cell line. We partially validated both somatic mutations and germline variants in these call sets via whole-exome sequencing (WES) with different sequencing platforms and targeted sequencing with >2,000-fold coverage, spanning 82% of genomic regions with high confidence. Although the gDNA reference samples are not representative of primary cancer cells from a clinical sample, when setting up a sequencing pipeline, they not only minimize potential biases from technologies, assays and informatics but also provide a unique resource for benchmarking 'tumor-only' or 'matched tumor-normal' analyses.

Published
2021
Full Text
View/download PDF

6. Whole genome and exome sequencing reference datasets from a multi-center and cross-platform benchmark study

Author

Zhao, Yongmei, Fang, Li Tai, Shen, Tsai-wei, Choudhari, Sulbha, Talsania, Keyur, Chen, Xiongfong, Shetty, Jyoti, Kriga, Yuliya, Tran, Bao, Zhu, Bin, Chen, Zhong, Chen, Wanqiu, Wang, Charles, Jaeger, Erich, Meerzaman, Daoud, Lu, Charles, Idler, Kenneth, Ren, Luyao, Zheng, Yuanting, Shi, Leming, Petitjean, Virginie, Sultan, Marc, Hung, Tiffany, Peters, Eric, Drabek, Jiri, Vojta, Petr, Maestro, Roberta, Gasparotto, Daniela, Koks, Sulev, Reimann, Ene, Scherer, Andreas, Nordlund, Jessica, Liljedahl, Ulrika, Foox, Jonathan, Mason, Christopher E., Xiao, Chunlin, Hong, Huixiao, Xiao, Wenming, Zhao, Yongmei, Fang, Li Tai, Shen, Tsai-wei, Choudhari, Sulbha, Talsania, Keyur, Chen, Xiongfong, Shetty, Jyoti, Kriga, Yuliya, Tran, Bao, Zhu, Bin, Chen, Zhong, Chen, Wanqiu, Wang, Charles, Jaeger, Erich, Meerzaman, Daoud, Lu, Charles, Idler, Kenneth, Ren, Luyao, Zheng, Yuanting, Shi, Leming, Petitjean, Virginie, Sultan, Marc, Hung, Tiffany, Peters, Eric, Drabek, Jiri, Vojta, Petr, Maestro, Roberta, Gasparotto, Daniela, Koks, Sulev, Reimann, Ene, Scherer, Andreas, Nordlund, Jessica, Liljedahl, Ulrika, Foox, Jonathan, Mason, Christopher E., Xiao, Chunlin, Hong, Huixiao, and Xiao, Wenming

Abstract

With the rapid advancement of sequencing technologies, next generation sequencing (NGS) analysis has been widely applied in cancer genomics research. More recently, NGS has been adopted in clinical oncology to advance personalized medicine. Clinical applications of precision oncology require accurate tests that can distinguish tumor-specific mutations from artifacts introduced during NGS processes or data analysis. Therefore, there is an urgent need to develop best practices in cancer mutation detection using NGS and the need for standard reference data sets for systematically measuring accuracy and reproducibility across platforms and methods. Within the SEQC2 consortium context, we established paired tumor-normal reference samples and generated whole-genome (WGS) and whole-exome sequencing (WES) data using sixteen library protocols, seven sequencing platforms at six different centers. We systematically interrogated somatic mutations in the reference samples to identify factors affecting detection reproducibility and accuracy in cancer genomes. These large cross-platform/site WGS and WES datasets using well-characterized reference samples will represent a powerful resource for benchmarking NGS technologies, bioinformatics pipelines, and for the cancer genomics studies.

Published
2021
Full Text
View/download PDF

7. Whole genome and exome sequencing reference datasets from a multi-center and cross-platform benchmark study

Author

Zhao, Yongmei, Fang, Li Tai, Shen, Tsai-wei, Choudhari, Sulbha, Talsania, Keyur, Chen, Xiongfong, Shetty, Jyoti, Kriga, Yuliya, Tran, Bao, Zhu, Bin, Chen, Zhong, Chen, Wanqiu, Wang, Charles, Jaeger, Erich, Meerzaman, Daoud, Lu, Charles, Idler, Kenneth, Ren, Luyao, Zheng, Yuanting, Shi, Leming, Petitjean, Virginie, Sultan, Marc, Hung, Tiffany, Peters, Eric, Drabek, Jiri, Vojta, Petr, Maestro, Roberta, Gasparotto, Daniela, Koks, Sulev, Reimann, Ene, Scherer, Andreas, Nordlund, Jessica, Liljedahl, Ulrika, Foox, Jonathan, Mason, Christopher E., Xiao, Chunlin, Hong, Huixiao, Xiao, Wenming, Zhao, Yongmei, Fang, Li Tai, Shen, Tsai-wei, Choudhari, Sulbha, Talsania, Keyur, Chen, Xiongfong, Shetty, Jyoti, Kriga, Yuliya, Tran, Bao, Zhu, Bin, Chen, Zhong, Chen, Wanqiu, Wang, Charles, Jaeger, Erich, Meerzaman, Daoud, Lu, Charles, Idler, Kenneth, Ren, Luyao, Zheng, Yuanting, Shi, Leming, Petitjean, Virginie, Sultan, Marc, Hung, Tiffany, Peters, Eric, Drabek, Jiri, Vojta, Petr, Maestro, Roberta, Gasparotto, Daniela, Koks, Sulev, Reimann, Ene, Scherer, Andreas, Nordlund, Jessica, Liljedahl, Ulrika, Foox, Jonathan, Mason, Christopher E., Xiao, Chunlin, Hong, Huixiao, and Xiao, Wenming

Abstract

With the rapid advancement of sequencing technologies, next generation sequencing (NGS) analysis has been widely applied in cancer genomics research. More recently, NGS has been adopted in clinical oncology to advance personalized medicine. Clinical applications of precision oncology require accurate tests that can distinguish tumor-specific mutations from artifacts introduced during NGS processes or data analysis. Therefore, there is an urgent need to develop best practices in cancer mutation detection using NGS and the need for standard reference data sets for systematically measuring accuracy and reproducibility across platforms and methods. Within the SEQC2 consortium context, we established paired tumor-normal reference samples and generated whole-genome (WGS) and whole-exome sequencing (WES) data using sixteen library protocols, seven sequencing platforms at six different centers. We systematically interrogated somatic mutations in the reference samples to identify factors affecting detection reproducibility and accuracy in cancer genomes. These large cross-platform/site WGS and WES datasets using well-characterized reference samples will represent a powerful resource for benchmarking NGS technologies, bioinformatics pipelines, and for the cancer genomics studies.

Published
2021
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results