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METHODS TO CAPTURE AND SEQUENCE LARGE FRAGMENTS OF DNA AND DIAGNOSTIC METHODS FOR NEUROMUSCULAR DISEASE

  • US 20140274741A1
  • Filed: 03/17/2014
  • Published: 09/18/2014
  • Est. Priority Date: 03/15/2013
  • Status: Abandoned Application
First Claim
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1. A method of sequencing a large fragment of DNA, the method comprising:

  • a) isolating genomic DNA from a biological sample;

    b) hybridizing the genomic DNA with a set of probes to form genomic DNA-probe complexes, wherein the set of probes targets sequences across the large fragment of DNA at intervals;

    c) purifying the genomic DNA from the complexes with affinity chromatography;

    d) shearing the genomic DNA to produce small fragments of DNA, wherein the small fragments of DNA comprise coding and non-coding sequences from the large fragment of DNA; and

    e) sequencing the small fragments of DNA with Next Generation Sequencing (NGS) to obtain the sequence of the large fragment of DNA.

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