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AI in Cancer Research / AI+癌症研究Cancer Genomics & Sequencing

Elaine R. Mardis

伊莱恩·马迪斯

PhD

🏢Nationwide Children's Hospital / Ohio State University(全国儿童医院 / 俄亥俄州立大学)🌐USA

Co-Executive Director, Institute for Genomic Medicine基因组医学研究所联合执行主任

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Key Papers
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Awards
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Key Contributions

👥Biography 个人简介

Elaine Mardis is Co-Executive Director of the Institute for Genomic Medicine at Nationwide Children's Hospital and Research Institute and Professor at the Ohio State University College of Medicine. She is one of the founders of the next-generation sequencing (NGS) field. Mardis co-directed the first complete cancer genome sequence (AML patient, 2008) — the landmark paper that launched the cancer genomics era by demonstrating that whole-genome sequencing of a tumor could identify actionable somatic mutations. She oversaw sequencing of over 100 cancer genomes in the early years at Washington University. She led the Genome Institute at Washington University (WashU) for two decades, where her team played central roles in The Cancer Genome Atlas (TCGA), the Pan-Cancer Analysis of Whole Genomes (PCAWG), and developing clinical cancer genome sequencing pipelines.

Elaine Mardis 是全国儿童医院和研究所基因组医学研究所的联合执行主任,也是俄亥俄州立大学医学院教授。她是下一代测序(NGS)领域的创始人之一。 Mardis 共同指导了第一个完整的癌症基因组测序(2008年AML患者)——这篇里程碑式的论文通过证明肿瘤全基因组测序可以识别可操作的体细胞突变,开创了癌症基因组学时代。

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🧪Research Fields 研究领域

Cancer Genome Sequencing癌症基因组测序
Next-Generation Sequencing Technology下一代测序技术
Tumor Neoantigen Discovery肿瘤新抗原发现
Pediatric Cancer Genomics儿科癌症基因组学
Genome Sequencing Clinical Translation基因组测序临床转化

🎓Key Contributions 主要贡献

First Complete Cancer Genome Sequence

Co-directed sequencing of the first complete cancer genome (AML patient) in 2008, demonstrating that whole-genome tumor sequencing can identify disease-causing somatic mutations and founding the cancer genomics era.

TCGA & PCAWG Leadership

Played central roles in The Cancer Genome Atlas and PCAWG consortia, coordinating sequencing of thousands of cancer genomes that defined the mutational landscapes of 33+ cancer types.

Neoantigen Discovery for Cancer Vaccines

Developed bioinformatic pipelines for identifying cancer-specific neoantigens from tumor genome sequences — the basis for personalized cancer vaccine development. Neoantigens guide current cancer immunotherapy clinical trials.

Clinical NGS Pipeline Development

Developed clinical-grade cancer genome sequencing workflows enabling actionable tumor genomics in clinical oncology practice, including pediatric cancer genomics programs at Nationwide Children's.

Representative Works 代表性著作

[1]

Recurring mutations found by sequencing an acute myeloid leukemia genome

Nature (2008)

First complete cancer genome sequence — landmark paper launching the cancer genomics era by proving clinical utility of tumor whole-genome sequencing.

[2]

Tumor evolution and drug response in patient-derived organoid models of bladder cancer

Cell (2018)

Integration of tumor genomics with patient-derived organoid drug testing for precision oncology.

🏆Awards & Recognition 奖项与荣誉

🏆National Academy of Sciences Member
🏆National Academy of Medicine Member
🏆American Academy of Arts and Sciences Fellow
🏆Genome Technology Pioneer Award
🏆AACR Outstanding Achievement Award
🏆Personalized Medicine World Conference Hall of Fame

📄Data Sources 数据来源

Last updated: 2026-04-05 | All information from publicly available academic sources

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