1
Caleb Kennedy, Gregory J Porreca: Sequence assembly. Good Start Genetics, Thomas C Meyers, June 26, 2012: US08209130 (52 worldwide citation)

The invention relates to assembly of sequence reads. The invention provides a method for identifying a mutation in a nucleic acid involving sequencing nucleic acid to generate a plurality of sequence reads. Reads are assembled to form a contig, which is aligned to a reference. Individual reads are a ...


2
KENNEDY Caleb J, UMBARGER Mark, PORRECA Gregory: [fr] MÉTHODES DIDENTIFICATION DE MUTATIONS ASSOCIÉES À DES MALADIES, [en] ANALYSIS METHODS. KENNEDY Caleb J, UMBARGER Mark, PORRECA Gregory, GOOD START GENETICS, MEYERS Thomas C, April 25, 2013: WO/2013/058907 (12 worldwide citation)

[en] The disclosure relates to methods for analyzing nucleic acids to identify mutations associated with diseases. More specifically, the methods of the invention involve obtaining nucleic acid from a subject having a disease, identifying at least one mutation in the nucleic acid, and comparing the ...


3
PORRECA GREGORY: Methods and compositions for evaluating genetic markers. GOOD START GENETICS, Waller Patrick R H, November 4, 2010: WO/2010/126614 (11 worldwide citation)

Aspects of the invention relates to methods and compositions that are useful to reduce bias and increase the reproducibility of multiplex analysis of genetic loci. In some configurations, predetermined preparative steps and/or nucleic acid sequence analysis techniques are used in multiplex analyses ...


4
Gregory Porreca, Caleb J Kennedy: Sequence assembly. Good Start Genetics, Thomas C Meyers, Brown Rudnick, May 27, 2014: US08738300 (8 worldwide citation)

The invention relates to assembly of sequence reads. The invention provides a method for identifying a mutation in a nucleic acid involving sequencing nucleic acid to generate a plurality of sequence reads. Reads are assembled to form a contig, which is aligned to a reference. Individual reads are a ...


5
UMBARGER Mark, PORRECA Gregory: IDENTIFICATION DUNE MATRICE DACIDES NUCLÉIQUES DANS UNE RÉACTION DE SÉQUENÇAGE MULTIPLEX, IDENTIFICATION OF A NUCLEIC ACID TEMPLATE IN A MULTIPLEX SEQUENCING REACTION. GOOD START GENETICS, UMBARGER Mark, PORRECA Gregory, MEYERS Thomas C, October 4, 2012: WO/2012/134884 (7 worldwide citation)

The invention generally relates to methods for maintaining the integrity and identification of a nucleic acid template in a multiplex sequencing reaction. In certain embodiments, methods of the invention involve obtaining a solution including a template nucleic acid, introducing an identifier nuclei ...


6
PORRECA Gregory, UMBARGER Mark, CHURCH George: MÉTHODES DE CONSERVATION DE LINTÉGRITÉ ET DIDENTIFICATION DUN MODÈLE DACIDE NUCLÉIQUE DANS UNE RÉACTION DE SÉQUENÇAGE MULTIPLEXÉE, METHODS FOR MAINTAINING THE INTEGRITY AND IDENTIFICATION OF A NUCLEIC ACID TEMPLATE IN A MULTIPLEX SEQUENCING REACTION. GOOD START GENETICS, PORRECA Gregory, UMBARGER Mark, CHURCH George, MEYERS Thomas C, June 28, 2012: WO/2012/087736 (7 worldwide citation)

The invention generally relates to methods for maintaining the integrity and identification of a nucleic acid template in a multiplex sequencing reaction. In certain embodiments, methods of the invention involve obtaining a template nucleic acid, incorporating a pair of sequence identifiers into the ...


7
Caleb J Kennedy, Niru Chennagiri: Methods and systems for storing sequence read data. Good Start Genetics, Thomas C Meyers, Brown Rudnick, September 30, 2014: US08847799 (5 worldwide citation)

The present invention generally relates to storing sequence read data. The invention can involve obtaining a plurality of sequence reads from a sample, identifying one or more sets of duplicative sequence reads within the plurality of sequence reads, and storing only one of the sequence reads from e ...


8
Caleb J Kennedy, Mark Umbarger, Gregory Porreca: Analysis methods. Good Start Genetics, Brown Rudnick, Thomas C Meyers, January 5, 2016: US09228233 (2 worldwide citation)

The invention generally relates to methods for analyzing nucleic acids to identify novel mutations associated with diseases. In certain embodiments, methods of the invention involve obtaining nucleic acid from a subject having a disease, identifying at least one mutation in the nucleic acid, and com ...


9
Marcia M Nizzari, Benjamin H Breton, David L Tefft, Xavier S Haurie: Variant database. Good Start Genetics, Thomas C Meyers, Brown Rudnick, August 19, 2014: US08812422 (1 worldwide citation)

The invention provides a system and method for describing polymorphisms or genetic variants based on information about mutations and relationships among them. The invention uses object-oriented concepts to describe variants as variant objects and relations among those variants as variant relation ob ...


10
Caleb J Kennedy, Niru Chennagiri: Methods and systems for storing sequence read data. Good Start Genetics, Brown Rudnick, Thomas C Meyers, March 22, 2016: US09292527 (1 worldwide citation)

The present invention generally relates to storing sequence read data. The invention can involve obtaining a plurality of sequence reads from a sample, identifying one or more sets of duplicative sequence reads within the plurality of sequence reads, and storing only one of the sequence reads from e ...