公开(公告)号：US20180314790A1

公开(公告)日：2018-11-01

申请号：US15523854

申请日：2015-11-04

申请人： METABOLON, INC.

发明人： Shaun Lonergan ,  John A. Ryals ,  Michael V Milburn ,  Adam Kennedy ,  Lining Guo ,  Kay A Lawton

IPC分类号： G06F19/18

CPC分类号： G01N33/50 ,  G01N2570/00 ,  G06F19/18

摘要： Methods using a combination of metabolomics and computer technology to determine sequence variants with potential negative or detrimental effects and enable the classification of a variant with an unknown or uncertain clinical significance from VUS status to benign, pathogenic or advantageous are described. For example, methods of using metabolomics to expedite personalized medicine based on genomic sequence analysis are described. Using metabolic profiles to determine (or aid in determining) the significance of genetic variants and enable the identification of diagnostic variants (those variants having a detrimental health affect) for use in personalized medicine is described. Further, using metabolic profiles to determine the presence of advantageous variants that may have a positive effect on patient health is also described.

公开(公告)号：US20200025729A1

公开(公告)日：2020-01-23

申请号：US16286259

申请日：2019-02-26

申请人： Metabolon, Inc.

发明人： Michael V. Milburn ,  John A. Ryals ,  Lining Guo ,  Andrea Eckhart ,  Jacob Wulff ,  Adam D. Kennedy ,  Thomas J. Jönsson ,  Ryan Douglas Michalek ,  Bryan Wittmann ,  Matthew Mitchell

IPC分类号： G01N30/88 ,  H01J49/00 ,  G01N33/487 ,  G01N30/72 ,  G01N33/50

摘要： Methods and systems are described herein for small molecule biochemical profiling of an individual subject for diagnosis of a disease or disorder, facilitating diagnosis of a disease or disorder, and/or identifying an increased risk of developing a disease or disorder in the individual subject. Aberrant levels of small molecules present in a sample from an individual subject are identified and diagnostic information relevant to the individual subject is obtained based on the identified aberrant levels. The obtained diagnostic information includes one or more of an identification of at least one biochemical pathway associated with the identified subset of the small molecules having aberrant levels, an identification at least one disease or disorder associated with the identified subset of the small molecules having aberrant levels, and an identification of at least one recommended follow up test associated with the identified subset of the small molecules having aberrant levels.

公开(公告)号：US10267777B2

公开(公告)日：2019-04-23

申请号：US15288917

申请日：2016-10-07

申请人： Metabolon, Inc.

发明人： Michael V. Milburn ,  John A. Ryals ,  Lining Guo ,  Andrea Eckhart ,  Jacob Wulff ,  Adam D. Kennedy ,  Thomas J. Jönsson ,  Ryan Douglas Michalek ,  Bryan Wittmann ,  Matthew Mitchell

IPC分类号： G01N30/72 ,  G01N30/88 ,  G01N33/50 ,  H01J49/00 ,  G01N33/487

摘要： Methods are described herein for small molecule biochemical profiling of an individual subject for diagnosis of a disease or disorder, facilitating diagnosis of a disease or disorder, and/or identifying an increased risk of developing a disease or disorder in the individual subject. Aberrant levels of small molecules present in a sample from an individual subject are identified and diagnostic information relevant to the individual subject is obtained based on the identified aberrant levels. The obtained diagnostic information includes one or more of an identification of at least one biochemical pathway associated with the identified subset of the small molecules having aberrant levels, an identification at least one disease or disorder associated with the identified subset of the small molecules having aberrant levels, and an identification of at least one recommended follow up test associated with the identified subset of the small molecules having aberrant levels.

公开(公告)号：US20170089872A1

公开(公告)日：2017-03-30

申请号：US15288917

申请日：2016-10-07

申请人： Metabolon, Inc.

发明人： Michael V. Milburn ,  John A. Ryals ,  Lining Guo ,  Andrea Eckhart ,  Jacob Wulff ,  Adam D. Kennedy ,  Thomas J. Jönsson ,  Ryan Douglas Michalek ,  Bryan Wittmann ,  Matthew Mitchell

IPC分类号： G01N30/88 ,  H01J49/00 ,  G01N30/72 ,  G01N33/487

CPC分类号： G01N30/88 ,  G01N30/7206 ,  G01N30/7233 ,  G01N33/487 ,  G01N33/50 ,  G01N2030/8813 ,  G01N2800/00 ,  G01N2800/04 ,  G01N2800/52 ,  H01J49/0036

摘要： Methods are described herein for small molecule biochemical profiling of an individual subject for diagnosis of a disease or disorder, facilitating diagnosis of a disease or disorder, and/or identifying an increased risk of developing a disease or disorder in the individual subject. Aberrant levels of small molecules present in a sample from an individual subject are identified and diagnostic information relevant to the individual subject is obtained based on the identified aberrant levels. The obtained diagnostic information includes one or more of an identification of at least one biochemical pathway associated with the identified subset of the small molecules having aberrant levels, an identification at least one disease or disorder associated with the identified subset of the small molecules having aberrant levels, and an identification of at least one recommended follow up test associated with the identified subset of the small molecules having aberrant levels.