公开(公告)号：WO2021163491A1

公开(公告)日：2021-08-19

申请号：PCT/US2021/017867

申请日：2021-02-12

申请人： QUEST DIAGNOSTICS INVESTMENTS LLC ,  CASTONGUAY, Carolyn P. ,  KARBASSI, Izabela ,  LAPIERRE, Jennifer L.

发明人： CASTONGUAY, Carolyn P. ,  KARBASSI, Izabela ,  LAPIERRE, Jennifer L.

IPC分类号： G06N3/12

摘要： The methods discussed herein can extract relevant signals from sparse data sets, for instance in cryptographic analysis, noise reduction, pattern recognition, or computational genetics. The present solution can improve technological performance of an analytical device such as through reducing server load, computation time, and data storage sizes. The present solution can identify relevant signals, such as genetic variants with a high probability of pathogenicity, in large, sparse data sets.

公开(公告)号：WO2015061422A1

公开(公告)日：2015-04-30

申请号：PCT/US2014/061730

申请日：2014-10-22

申请人： ATHENA DIAGNOSTICS, INC. ,  KARBASSI, Izabela ,  ELZINGA, Chirstopher ,  MASTON, Glenn ,  HIGGINS, Joseph ,  DEV BATISH, Sat ,  DIVINCENZO, Christina ,  MCCARTHY, Michele ,  LAPIERRE, Jennifer ,  DUBOIS, Felicita ,  MEDEIROS, Katelyn ,  JONES, Jeffrey

发明人： KARBASSI, Izabela ,  ELZINGA, Chirstopher ,  MASTON, Glenn ,  HIGGINS, Joseph ,  DEV BATISH, Sat ,  DIVINCENZO, Christina ,  MCCARTHY, Michele ,  LAPIERRE, Jennifer ,  DUBOIS, Felicita ,  MEDEIROS, Katelyn ,  JONES, Jeffrey ,  BRAASTAD, Corey

IPC分类号： G06F19/18

CPC分类号： G06F19/18

摘要： 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.

摘要翻译： 提供用于确定遗传变体的临床意义的方法和系统。 该方法需要确定（a）基于变体对细胞或蛋白质的生物学功能的已知影响的功能评分，（b）基于群体中变异体的频率的频率得分（ c）基于变体如何与具有临床疾病或病症的已知临床意义的参考变体共同发生的共同得分，以及（d）基于变异如何与疾病或病症分离的家族分离评分 在一个家庭 并在计算机上聚合功能评分，频率分数，共同分数，家族分离评分以产生表示遗传变体的临床意义的临床显着性评分。

公开(公告)号：WO2011109698A1

公开(公告)日：2011-09-09

申请号：PCT/US2011/027165

申请日：2011-03-04

申请人： RXI PHARMACEUTICALS CORPORATION ,  BULOCK, Karen, G. ,  KHVOROVA, Anastasia ,  LAPIERRE, Jennifer

发明人： BULOCK, Karen, G. ,  KHVOROVA, Anastasia ,  LAPIERRE, Jennifer

IPC分类号： C07H21/02

CPC分类号： A61K31/716 ,  A61K9/5036 ,  A61K9/5063 ,  A61K9/5068 ,  A61K31/7088 ,  A61K48/0008

摘要： Aspects of the invention relate to methods and compositions for efficient nucleic acid delivery of hydrophobic modified nucleic acids complexed with glucan particles.

摘要翻译： 本发明的方面涉及用于与葡聚糖颗粒复合的疏水性修饰核酸的有效核酸递送的方法和组合物。