IDENTIFYING REARRANGEMENTS IN A SEQUENCED GENOME
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United States of America Patent
Stats
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N/A
Issued Date -
Aug 2, 2012
app pub date -
Jan 28, 2011
filing date -
Oct 11, 2010
priority date (Note) -
Abandoned
status (Latency Note)
Importance
Abstract
Methods, apparatuses, and systems for identification of junctions (e.g., resulting from large-scale rearrangements) of a sequenced genome with respect to a human genome reference sequence is provided. For example, false positives can be distinguished from actual junctions. Such false positives can result from many sources, including mismapping, chimeric reactions among the DNA of a sample, and problems with the reference genome. As part of the filtering processes, a base pair resolution (or near base pair resolution) of a junction can be provided. In various implementations, junctions can be identified using discordant mate pairs and/or using a statistical analysis of the length distributions of fragments for local regions of the sample genome. Clinically significant junctions can also be identified so that further analysis can be focused on genomic regions that may have more of an impact on the health of a patient.
First Claim
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