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A thorough characterization of structural variants in human genomes

20:00 EDT 15 Apr 2019 | AAAS

(Jackson Laboratory) Human genomes vary quite a bit from individual to individual. These differences include single nucleotide changes, or "spelling mistakes" in the DNA sequence, but even more variation comes from structural variants, which include additions, deletions and rearrangements of large segments of DNA. A recent study used multiple advanced technologies to dive deeper than ever before to comprehensively characterize the structural variants present in three families, and what their functional consequences might be.

Original Article: A thorough characterization of structural variants in human genomes

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Bioinformatics
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...