Publications by authors named "Amber Ratcliffe"
We describe a technology, the NanoString nCounter gene expression system, which captures and counts individual mRNA transcripts. Advantages over existing platforms include direct measurement of mRNA expression levels without enzymatic reactions or bias, sensitivity coupled with high multiplex capability, and digital readout. Experiments performed on 509 human genes yielded a replicate correlation coefficient of 0.
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- The study presents a complete sequence of human chromosome 15, accompanied by a detailed gene catalogue.
- Chromosome 15 is characterized by high rates of segmental duplication, particularly in two areas which are important for understanding genetic disorders like Prader-Willi and Angelman syndromes.
- The researchers identified that most duplications have a common ancestry and that gaps in the genome sequence may arise from structural differences between genetic variants, contributing to ongoing challenges in mapping the human genome.
Chromosome 14 is one of five acrocentric chromosomes in the human genome. These chromosomes are characterized by a heterochromatic short arm that contains essentially ribosomal RNA genes, and a euchromatic long arm in which most, if not all, of the protein-coding genes are located. The finished sequence of human chromosome 14 comprises 87,410,661 base pairs, representing 100% of its euchromatic portion, in a single continuous segment covering the entire long arm with no gaps.
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