100,000 genomes pilot on rare-disease diagnosis in health care preliminary report-Reference-Cited by-同舟云学术

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100,000 genomes pilot on rare-disease diagnosis in health care preliminary report

Published:2022-09-12 Issue: Volume: Page:
ISSN:1662-4009
Container-title:Yearbook of Paediatric Endocrinology
language:
Short-container-title:ESPE

Author:

Genomes-Project-Pilot-Investigators The

Publisher

Bioscientifica

Subject

General Earth and Planetary Sciences,General Environmental Science

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Implementing Whole Genome Sequencing (WGS) in Clinical Practice: Advantages, Challenges, and Future Perspectives;Cells;2024-03-13

2. A Panel-Agnostic Strategy ‘HiPPo’ Improves Diagnostic Efficiency in the UK Genomic Medicine Service;Healthcare;2023-12-15

3. Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen;International Journal of Neonatal Screening;2023-09-21

4. Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation;Nature Methods;2023-09-14

5. The Future of Precision Oncology;International Journal of Molecular Sciences;2023-08-09

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