Sequencing the DNA of a single cell

Overview Whole genome sequencing on DNA of a single cell has been reported by several authors. Singe cell genome sequencing is of interest in a number of niche applications, such as the measuring of the genomic diversity in one individual’s gamete genomes, the mutation phase determination, and somatic DNA changes in tumors or after exposure to mutagenic agents. […]

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MMP21 mutations causing autosomal recessively inherited heterotaxy

Causing a developmental disorder By whole-exome and whole-genome sequencing evidence has been found that MMP21 gene mutations may cause an autosomal recessively inherited form of heterotaxy. Heterotaxy (or heterotaxia) is an abnormal positioning of the thoracic and/or abdominal organs reversing left/right with respect to normal. The incidence is approximately 1/15,000. Mutations in several other genes and all kinds of inheritance […]

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