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Seven Bridges Rare Disease Day 2017 With A Commitment To Provide New Insights Into Rare Diseases Software
1 software items found
by:Seven Bridges Genomics based inCharlestown, MASSACHUSETTS (USA)
The representation of the human reference genome as a linear haploid DNA sequence poses limitations when trying to incorporate the known genetic diversity of human populations. This has led to the development of graph-based references, able to naturally represent all polymorphisms, including insertions, deletions, and structural ...