Obtaining high-quality sequence continuity of complex regions of recent segmental
duplication remains one of the major challenges of finishing genome assemblies. In the …

Whole exome sequencing (WES) is increasingly used in research and diagnostics. WES
users expect coverage of the entire coding region of known genes as well as sufficient read …

Abstract Purpose of Review Copy number variants (CNVs), gains and losses of segments of
genomic DNA associated with normal phenotypic variation and disease states, are …

Monoallelic PMS2 germline mutations cause 5%–15% of Lynch syndrome, a midlife cancer
predisposition, whereas biallelic PMS2 mutations cause approximately 60% of constitutional …

Marine picocyanobacteria belonging to Synechococcus are major contributors to the global
carbon cycle, however the genomic information of its cold-adapted members has been …

Abstract Systems and method for identifying long deletions can obtain sequencing
information for a plurality of amplicons in and around a potential region from a nucleic acid …

Genome instability is a hallmark of many tumors and recently, next‐generation sequencing
methods have enabled analyses of tumor genomes at an unprecedented level. Studying …

Next generation sequencing (NGS) technology has become a serious computational
challenge since its commercial introduction in 2008. Currently, thousands of machines …

A polymer of monosaccharides with a phosphate group and one of several
nitrogencontaining, complementary nucleobases. The monosaccharides polymerize to form …

Systems and method for identifying long deletions can obtain sequencing information for a
plurality of amplicons in and around a potential region from a nucleic acid sample. The …