Clearnote Health, Inc.

Karius, Inc.

Bluestar Genomics, Inc.

Damek Spacek

Patrick A Arensdorf

Igor D Vilfan

Timothy A Blauwkamp

Michael Rosen

David K Hong

Trupti Kawli

Sivan Bercovici

Lily Blair

Peter J Eugster

Michael J Rosen

Methods are provided for the epigenetic analysis of cell-free DNA using organic boranes to convert oxidized 5-methylcytosine residues in the cell-free DNA to dihydrouracil (DHU) residues. Cell-free DNA is contacted with an organic borane selected to successively bring about reduction, deamination, and decarboxylation of oxidized 5-methylcytosine residues such as 5-carboxylcytosine and 5-formylcytosine, resulting in DHU residues in place thereof. Following amplification, the treated cell-free DNA is sequenced, with the DHU residues read as thymine residues. Reaction mixtures, kits and additional methods are also provided, as are related methods for the epigenetic analysis of DNA, including cell-free DNA.

Methods for the epigenetic analysis of DNA, particularly cell-free DNA

Provided herein are direct-to-library methods, systems, and compositions.

Direct-to-library methods, systems, and compositions

Methods are provided for the epigenetic analysis of cell-free DNA using organic boranes to convert oxidized 5-methylcytosine residues in the cell-free DNA to dihydrouracil (DHU) residues. Cell-free DNA is contacted with an organic borane selected to successively bring about reduction, deamination, and decarboxylation of oxidized 5-methylcytosine residues such as 5-carboxymethylcytosine and 5-formylcytosine, resulting in DHU residues in place thereof. Following amplification, the treated cell-free DNA is sequenced, with the DHU residues read as thymine residues. Reaction mixtures, kits and additional methods are also provided, as are related methods for the epigenetic analysis of DNA, including cell-free DNA.

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Palo Alto, CA, United States of America

Damek Spacek