CFTR haplotype phasing using long-read genome sequencing from ultralow input DNA
Purpose: Newborn screening identifies rare diseases that result from the recessive inheritance of pathogenic variants in both copies of a gene. Long-read genome sequencing (LRS) is used for identifying and phasing genomic variants, but further efforts are needed to develop LRS for applications using...
| 主要な著者: | , , , , |
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| フォーマット: | 論文 |
| 言語: | English |
| 出版事項: |
Elsevier
2025-01-01
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| シリーズ: | Genetics in Medicine Open |
| 主題: | |
| オンライン･アクセス: | http://www.sciencedirect.com/science/article/pii/S2949774425000019 |