基因组
条形码
计算生物学
生物
DNA测序
结构变异
全基因组测序
计算机科学
遗传学
DNA
基因
操作系统
出处
期刊:Methods in molecular biology
日期:2022-11-07
卷期号:: 85-99
标识
DOI:10.1007/978-1-0716-2819-5_6
摘要
Complete comprehension of clinically relevant variation among human genomes is likely only to come from sequencing platforms that are cost-efficient, and which feature both accurate base calling and long-range DNA phasing capability. The NGS revolution has struggled to meet the latter of these needs. Here we describe a protocol to address this limitation by preserving the molecular origin of short sequencing reads with an insignificant increase to sequencing costs. Whole haplotype-resolved genomes with megabase-scale phase blocks can be obtained with this method; offering researchers a unique opportunity to tackle the hurdles of de novo sequencing without being limited by a lack of resources.
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