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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.


Patent
Athena Diagnostics and Johns Hopkins University | Date: 2014-05-28

The present invention relates to methods of detecting novel mutations in a PKD1 and/or PKD2 gene that have been determined to be associated with autosomal dominant polycystic kidney disease (ADPKD) in order to detect or predict the occurrence of ADPKD in an individual.


Maston G.A.,Howard Hughes Medical Institute | Maston G.A.,Athena Diagnostics | Landt S.G.,Stanford University | Snyder M.,Stanford University | Green M.R.,Howard Hughes Medical Institute
Annual Review of Genomics and Human Genetics | Year: 2012

There has been a recent surge in the use of genome-wide methodologies to identify and annotate the transcriptional regulatory elements in the human genome. Here we review some of these methodologies and the conceptual insights about transcription regulation that have been gained from the use of genome-wide studies. It has become clear that the binding of transcription factors is itself a highly regulated process, and binding does not always appear to have functional consequences. Numerous properties have now been associated with regulatory elements that may be useful in their identification. Several aspects of enhancer function have been shown to be more widespread than was previously appreciated, including the highly combinatorial nature of transcription factor binding, the postinitiation regulation of many target genes, and the binding of enhancers at early stages to maintain their competence during development. Going forward, the integration of multiple genome-wide data sets should become a standard approach to elucidate higher-order regulatory interactions. © 2012 by Annual Reviews. All rights reserved.


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.


Patent
Athena Diagnostics | Date: 2014-06-06

Described herein are methods, compositions and kits for preparing samples for multiplex next generation nucleic acid sequencing. The methods entail the use of in-line barcodes that minimize barcode-confusing chimeras, purification procedures with low cost, and/or a quantitative amplification to generate a desired amount of polynucleotides for sequencing.


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.


Patent
Athena Diagnostics | Date: 2015-11-13

Provided herein are methods and compositions for the detection of silent carriers of chromosomal deletion alleles in a human subject using haploid cells (e.g., sperm cells or egg cells) derived from the subject. The methods provided herein allow for the detection of silent (2+0) carriers of SMA, where the individual has a deletion of the SMN1 gene on one chromosome 5 homolog and two or more copies of the SMN1 gene on the other chromosome 5 homolog.


Patent
Athena Diagnostics | Date: 2014-10-22

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.


News Article | February 24, 2011
Site: www.xconomy.com

Waltham, MA-based Thermo Fisher Scientific (NYSE:TMO) says it has inked deals to sell its Athena Diagnostics and Lancaster Laboratories businesses for a total of $940 million in cash to boost shareholder value. Details about Thermo Fisher’s plans to sell the businesses were leaked to the press last month. Madison, NJ-based lab testing giant Quest Diagnostics has agreed to buy Athena, a Worcester, MA-based provider of gene tests for neurological and other diseases, for $740 million. Eurofins Scientific of Brussels, Belgium, is agreeing taking over Lancaster Labs, the Lancaster, PA-based business that offers contract testing and analysis services to pharmaceutical companies, for $200 million. By posting a comment, you agree to our terms and conditions.

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