A method for constructing a gene mutation library, also relating to the gene mutation library obtained by the method, a kit for the method for constructing a gene mutation library, and a method for analyzing the relationships between amino acid mutations in a protein and the properties, regulation, and/or function of the protein using the gene mutation library constructed by the method.

A method for constructing a gene mutation library, also relating to the gene mutation library obtained by the method, a kit for the method for constructing a gene mutation library, and a method for analyzing the relationships between amino acid mutations in a protein and the properties, regulation, and/or function of the protein using the gene mutation library constructed by the method.

The presently disclosed subject matter provides high-throughput methods for performing genomic DNA methylation assessments. The presently disclosed subject matter further provides methods for diagnosing a subject with a disease and/or disorder, and for determining the prognosis of a subject that has a disease and/or disorder. In certain embodiments, the present disclosure provides a diagnostic method that includes obtaining a biological sample from the subject; determining the methylation status of one or more genomic DNA loci in one or more cells of the biological sample; and diagnosing a disease and/or disorder in the subject, wherein the methylation status of the one or more genomic DNA loci indicates the presence of the disease and/or disorder in the subject.

The present invention relates to new methods for diagnosing a pregnancy-associated disorder by analyzing fetal DNA present in the mother's blood. More specifically, this invention relies on the discovery that the maspin gene is differentially methylated in fetal DNA and in maternal DNA and provides these new diagnostic methods, which distinguish fetal DNA from maternal DNA and detect prenatal disorders based on abnormalities in fetal DNA level and methylation status.

The present invention relates to new methods for diagnosing a pregnancy-associated disorder by analyzing fetal DNA present in the mother's blood. More specifically, this invention relies on the discovery that the maspin gene is differentially methylated in fetal DNA and in maternal DNA and provides these new diagnostic methods, which distinguish fetal DNA from maternal DNA and detect prenatal disorders based on abnormalities in fetal DNA level and methylation status.

Novel methods and compositions are provided for determining global methylation patterns in isolated genomic DNA. The method ustilizes methylation sensitive restriction enzymatic cleavage followed by Next Gernation Sequencing of the remaining DNA to identify sequences comprising methylated nucleic acid residues. In accordance with one embodiment a method is provided for monitoring global methylation patterns in genomic DNAs recovered from organisms or cell populations.

Novel methods and compositions are provided for determining global methylation patterns in isolated genomic DNA. The method ustilizes methylation sensitive restriction enzymatic cleavage followed by Next Gernation Sequencing of the remaining DNA to identify sequences comprising methylated nucleic acid residues. In accordance with one embodiment a method is provided for monitoring global methylation patterns in genomic DNAs recovered from organisms or cell populations.

The present invention relates to methods and devices for identifying and quantifying, including low abundance, nucleotide base mutations, insertions, deletions, translocations, splice variants, miRNA variants, alternative transcripts, alternative start sites, alternative coding sequences, alternative non-coding sequences, alternative splicings, exon insertions, exon deletions, intron insertions, or other rearrangement at the genome level and/or methylated nucleotide bases.

The present invention relates to methods and devices for identifying and quantifying, including low abundance, nucleotide base mutations, insertions, deletions, translocations, splice variants, miRNA variants, alternative transcripts, alternative start sites, alternative coding sequences, alternative non-coding sequences, alternative splicings, exon insertions, exon deletions, intron insertions, or other rearrangement at the genome level and/or methylated nucleotide bases.

Sequencing adaptors and methods are provided for preparation of polynucleotides for sequencing. The sequencing adaptors contain a portion of a recognition sequence for a methyl-dependent endonuclease. Unwanted adaptor dimers that form during ligation of adaptors to target polynucleotides produce a complete restriction sequence and are cleaved by the endonuclease, followed by exonuclease digestion, thereby removing the dimers.