Detecting repeat expansions with short read sequencing data
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United States of America Patent
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Jun 30, 2020
Grant Date -
Aug 31, 2017
app pub date -
Sep 11, 2015
filing date -
Sep 12, 2014
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Abstract
The disclosed embodiments concern methods, apparatus, systems and computer program products for determining the presence or absence of repeat expansions of interest, including repeat expansions of repeat sequences that are medically significant. Some embodiments provide methods for identifying and calling medically relevant repeat expansions using anchored reads. An anchored read is a paired end read that is unaligned to a repeat sequence under consideration, but it is paired with an anchor read that is aligned to or near the repeat sequence. Some embodiments use both anchor and anchored reads to determine the presence or absence of the repeat expansions. System, apparatus, and computer program products are also provided for determining repeat expansion implementing the methods disclosed.
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