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Updated: Aug 11, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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在394,783个表细胞中罕见的编码变异的多基因架构

Daniel J Weiner1,2,3, Ajay Nadig4,5,6, Karthik A Jagadeesh7,8

  • 1Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. dweiner@broadinstitute.org.

Nature
|February 9, 2023
PubMed
概括

罕见的遗传变异解释了常见疾病的遗传能力的一小部分,与常见的变异不同. 然而,常见的和罕见的变异都影响着相同的生物途径和特征,表明了融合的遗传机制.

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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