US 2004/0002090 A1Published application

Methods for detecting genome-wide sequence variations associated with a phenotype

OwnerPascal Mayer, Ilia Leviev +2inventors

InventorsPascal Mayer, Ilia Leviev, Magne Osteras, Laurent Farinelli

Life of this patent

Estimating the term…

Loading patent…

Abstract

The invention provides methods for determining genome-wide sequence variations associated with a phenotype of a species in a hypothesis-free manner. In the methods of the invention, a set of restriction fragments for each of a sub-population of individuals having the phenotype are generated by digesting nucleic acids from the individual using one or more different restriction enzymes. A set of restriction sequence tags for the individual is then determined from the set of restriction fragments. The restriction sequence tags for the sub-population of organisms are compared and grouped into one or more groups, each of which comprising restriction sequence tags that comprise homologous sequences. The obtained one or more groups of restriction sequence tags identify the sequence variations associated with the phenotype. The methods of the invention can be used for, e.g., analysis of large numbers of sequence variants in many patient samples to identify subtle genetic risk factors.

Claims102

Dependent claims

A method for determining genome-wide sequence variations associated with a phenotype of one or more individual organisms, comprising

I) generating a set of restriction sequence tags for each individual organism of said one or more individual organisms by a method comprising
A) digesting nucleic acids from each said individual organism using one or more first restriction enzymes to generate a set of restriction fragments;
and
B) determining a set of restriction sequence tags for each said individual organism, wherein said set of restriction sequence tags comprises one or more restriction sequence tags for each of said restriction fragments, each said one or more restriction sequence tags comprising a sequence in the corresponding restriction fragment;
and
II) grouping restriction sequence tags for said one or more individual organisms into one or more groups of restriction sequence tags, each said group comprising restriction sequence tags that are homologous;
wherein said one or more groups of restriction sequence tags identify sequence variations associated with said phenotype.

4 more elements

Dependencies are inferred from the claim text.