METHODS TO CAPTURE AND SEQUENCE LARGE FRAGMENTS OF DNA AND DIAGNOSTIC METHODS FOR NEUROMUSCULAR DISEASE
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United States of America Patent
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Issued Date -
Sep 18, 2014
app pub date -
Mar 17, 2014
filing date -
Mar 15, 2013
priority date (Note) -
Abandoned
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Abstract
The present invention provides methods of sequencing a large fragment of DNA by hybridizing a set of specifically designed probes to the DNA, shearing the DNA, and sequencing the DNA with Next Generation Sequencing. The probes are designed to target genes of interest at intervals to allow the capture of relatively large DNA fragments. The present invention also provides methods of diagnosing a neuromuscular disease (NMD) comprising detecting mutations in one or more of SCML2, CHRND, OFD1, DYNC1H1, COL6A3, EMD, ARHGAP4, FLNA, MID1IP1, MID1, and CFP.
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