公开(公告)号：US20200149107A1

公开(公告)日：2020-05-14

申请号：US16545874

申请日：2019-08-20

Applicant: Athena Diagnostics, Inc.

Inventor： Corey D. Braastad ,  Narasimhan Nagan ,  Jeffrey G. Jones ,  William K. Seltzer ,  Susan K. Allen ,  Sat Dev Batish ,  Hui Zhu

IPC: C12Q1/6883

Abstract: Methods of identifying polymorphisms associated with ataxia-ocular apraxia 2 (AOA2), are described. The polymorphisms associated with AOA2 include specific mutations in the senataxin (SETX) gene. Also described are methods of diagnosis of AOA2, as well as methods of assessing an individual for carrier status for AOA2.

公开(公告)号：US20170166970A1

公开(公告)日：2017-06-15

申请号：US15438209

申请日：2017-02-21

Applicant: Athena Diagnostics, Inc.

Inventor： Corey D. Braastad ,  Narasimhan Nagan ,  Jeffrey G. Jones ,  William K. Seltzer ,  Susan K. Allen ,  Sat Dev Batish ,  Hui Zhu

IPC: C12Q1/68

CPC classification number: C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/158

Abstract: Methods of identifying polymorphisms associated with ataxia-ocular apraxia 2 (AOA2), are described. The polymorphisms associated with AOA2 include specific mutations in the senataxin (SETX) gene. Also described are methods of diagnosis of AOA2, as well as methods of assessing an individual for carrier status for AOA2.

公开(公告)号：US20140323318A1

公开(公告)日：2014-10-30

申请号：US14329671

申请日：2014-07-11

Applicant: Athena Diagnostics, Inc.

Inventor： Corey D. BRAASTAD ,  Narasimhan Nagan ,  Jeffrey G. Jones ,  William K. Seltzer ,  Susan K. Allen ,  Sat Dev Batish ,  Hui Zhu

IPC: C12Q1/68

CPC classification number: C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/158

Abstract: Methods of identifying polymorphisms associated with ataxia-ocular apraxia 2 (AOA2), are described. The polymorphisms associated with AOA2 include specific mutations in the senataxin (SETX) gene. Also described are methods of diagnosis of AOA2, as well as methods of assessing an individual for carrier status for AOA2.

Abstract translation: 描述了与共济失调 - 眼睛不适2（AOA2）相关的多态性鉴定方法。 与AOA2相关的多态性包括senataxin（SETX）基因中的特异性突变。 还描述了诊断AOA2的方法，以及评估个体对于AOA2的载体状态的方法。

公开(公告)号：US09611512B2

公开(公告)日：2017-04-04

申请号：US14329671

申请日：2014-07-11

Applicant: Athena Diagnostics, Inc.

Inventor： Corey D. Braastad ,  Narasimhan Nagan ,  Jeffrey G. Jones ,  William K. Seltzer ,  Susan K. Allen ,  Sat Dev Batish ,  Hui Zhu

IPC: C07H21/04 ,  C12Q1/68

CPC classification number: C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/158

Abstract: Methods of identifying polymorphisms associated with ataxia-ocular apraxia 2 (AOA2), are described. The polymorphisms associated with AOA2 include specific mutations in the senataxin (SETX) gene. Also described are methods of diagnosis of AOA2, as well as methods of assessing an individual for carrier status for AOA2.

公开(公告)号：US10762981B2

公开(公告)日：2020-09-01

申请号：US15028190

申请日：2014-10-22

Applicant: Athena Diagnostics, Inc.

Inventor： Izabela Karbassi ,  Christopher Elzinga ,  Glenn Maston ,  Joseph Higgins ,  Sat Dev Batish ,  Christina Divincenzo ,  Michele McCarthy ,  Jennifer Lapierre ,  Felicita Dubois ,  Katelyn Medeiros ,  Jeffery Jones ,  Corey Braastad

IPC: G16B20/00

Abstract: Provided are methods and systems for determining the clinical significance of a genetic variant. The methods entail determining, for the variant, (a) a function score based on known impact of the variant on a biological function of a cell or protein, (b) a frequency score based on the frequency of the variant in a population, (c) a co-occurrence score based on how the variant co-occurs with a reference variant having known clinical significance relating to a clinical disease or condition, and (d) a family segregation score based on how the variant segregates with a disease or condition in a family; and aggregating, on a computer, the function score, the frequency score, the co-occurrence score, the family segregation score to generate a clinical significance score indicating the clinical significance of the genetic variant.

公开(公告)号：US11512352B2

公开(公告)日：2022-11-29

申请号：US16545874

申请日：2019-08-20

Applicant: Athena Diagnostics, Inc.

Inventor： Corey D. Braastad ,  Narasimhan Nagan ,  Jeffrey G. Jones ,  William K. Seltzer ,  Susan K. Allen ,  Sat Dev Batish ,  Hui Zhu

IPC: C07H21/04 ,  C12Q1/68 ,  C12Q1/6883

Abstract: Methods of identifying polymorphisms associated with ataxia-ocular apraxia 2 (AOA2), are described. The polymorphisms associated with AOA2 include specific mutations in the senataxin (SETX) gene. Also described are methods of diagnosis of AOA2, as well as methods of assessing an individual for carrier status for AOA2.