Keygene N.v.

Henricus Johannes Adam Van Der Poel

Michael Josephus Theresia Van Eijk

The invention relates to a method for identifying one or more polymorphisms in nucleic acid samples, comprising: (a) performing a reproducible complexity reduction on a plurality of nucleic acid samples to provide a plurality of libraries of the nucleic acid samples comprising amplified fragments, wherein the reproducible complexity reduction comprises amplifying fragments of the nucleic acid samples using one or more primers to obtain the amplified fragments, and wherein the amplified fragments in each library comprise a unique identifier sequence to indicate origin of each library obtained by the reproducible complexity reduction; (b) combining the plurality of libraries to obtain a combined library and sequencing at least a portion of the combined library to obtain sequences; (c) aligning the sequences to obtain an alignment; and (d) identifying one or more polymorphisms in the plurality of nucleic acid samples.

Strategies for high throughput identification and detection of polymorphisms

The invention relates to a method for the high throughput identification of single nucleotide polymorphisms by performing a complexity reduction on two or more samples to yield two or more libraries, sequencing at least part of the libraries, aligning the identified sequences and determining any putative single nucleotide polymorphisms, confirming any putative single nucleotide polymorphism, generating detection probes for the confirmed single nucleotide polymorphisms, subjection a test sample to the same complexity reduction to provide a test library and screen the test library for the presence or absence of the single nucleotide polymorphisms using the detection probe.

The invention involves methods and uses of a combination of at least two nucleotide sequence identifiers in the preparation of a sample DNA for high throughput sequencing. Accordingly, in the high throughput sequencing a plurality of prepared sample DNAs, each preparation of a sample DNA comprises a unique combination of the at least two nucleotide sequence identifiers wherein a first nucleotide sequence identifier is selected from a group of nucleotide sequence identifiers and a second nucleotide sequence identifier is selected from the group of nucleotide sequence identifiers.

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Renkum, Netherlands

Henricus Johannes Adam Van Der Poel