Illumina Cambridge Limited

Solexa, Inc.

Cambridge Epigenetix Limited

Illumina Corporation

Cambridge Enterprise Limited

Shankar Balasubramanian

Colin Lloyd Barnes

Xiaohai Liu

John Milton

Harold Philip Swerdlow

Roberto Rigatti

Geoffrey Paul Smith

Xiaolin Wu

Tobias William Barr Ost

David Klenerman

Raquel Maria Sanches-Kuiper

Michael John Booth

David Bentley

Helen Rachel Bignell

Oliver Nentwich

Mark Allen Osborne

Raquel Maria Sanches

Tobias Ost

David Morley

Sidong Liu

Joanna Dawn Holbrook

Walraj Singh Gosal

Jens Fullgrabe

Nicolas James Walker

Michael Steward

Albert Vilella

Shirong Yu

Rita Santo San-Bento

Dario Bressan

Hannon Gregory

Provided herein are methods, systems, and compositions for determining a base in a polynucleotide. In various aspects, the methods, systems, and compositions presented herein are useful for performing 4-base, 5-base, or 6-base sequencing of polynucleotide molecules, for example, from liquid biopsy samples or wherein the base is a low frequency mutation.

Methods for analyzing nucleic acids

Nucleosides and nucleotides are disclosed that are linked to detectable labels via a cleavable linker group.

Labelled nucleotides

This invention relates to the identification of modified cytosine residues, such as 5-methylcytosine (5mC), 5-hydroxymethylcytosine (5hmC) and 5-formylcytosine (5fC) to be distinguished from cytosine (C) in a sample nucleotide sequence. Methods may comprise oxidizing or reducing a first portion of polynucleotides which comprise the sample nucleotide sequence; treating the oxidized or reduced first portion and a second portion of polynucleotides with bisulfite; sequencing the polynucleotides in the first and second portions of the population following steps ii) and iii) to produce first and second nucleotide sequences, respectively and; identifying the residue in the first and second nucleotide sequences which corresponds to a cytosine residue in the sample nucleotide sequence. These methods may be useful, for example in the analysis of genomic DNA and/or of RNA.

Methods for detection of nucleotide modification

Modified DNA polymerases have an affinity for DNA such that the polymerase has an ability to incorporate one or more nucleotides into a plurality of separate DNA templates in each reaction cycle. The polymerases are capable of forming an increased number of productive polymerase-DNA complexes in each reaction cycle. The modified polymerases may be used in a number of DNA sequencing applications, especially in the context of clustered arrays.

Polymerases

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Cambridge, United Kingdom

Shankar Balasubramanian