Germline and somatic sequence variants in non-coding regions can play an important role in cancer. Many different modes of action of non-coding variants are known. For example, point mutations and ...

The breadth of coverage is the percentage of target bases that have been sequenced for a given number of times. Hybrid sequencing approaches are being introduced to overcome problems in genome ...

Genes in the millions of cells throughout the human body aid in the construction, repair, and maintenance of all bodily functions. However, mutations in these genes can disrupt this balance, leading ...

Pacific Biosciences of California Inc.’s technology could rapidly increase the number of rare diseases—and their causes—identified by sequencing. Researchers at Children’s Mercy Research Institute in ...

Using the iconPCR system, n6 presents enhancements in low-pass whole genome sequencing. This approach enables balanced, ...

The non-coding genome, once dismissed as "junk DNA", is now recognized as a fundamental regulator of gene expression and a key player in understanding complex diseases. Following the landmark ...

More that 7,000 rare disorders in aggregate affect millions of people. Researchers have now shown that it may be possible to more quickly identify the causative gene for many of these disorders by ...

Journal of Experimental Botany, Vol. 66, No. 15 (2015), pp. 4483-4495 (13 pages) Recently, long non-coding RNAs (lncRNAs) have been shown to play critical regulatory roles in model plants, such as ...