Abstract: This disclosure provides systems and methods for sample processing and data analysis. Sample processing may include nucleic acid sample processing and subsequent sequencing. Some or all of a nucleic acid sample may be sequenced to provide sequence information, which may be stored or otherwise maintained in an electronic storage location. The sequence information may be analyzed with the aid of a computer processor, and the analyzed sequence information may be stored in an electronic storage location that may include a pool or collection of sequence information and analyzed sequence information generated from the nucleic acid sample. Methods and systems of the present disclosure can be used, for example, for the analysis of a nucleic acid sample, for producing one or more libraries, and for producing biomedical reports. Methods and systems of the disclosure can aid in the diagnosis, monitoring, treatment, and prevention of one or more diseases and conditions.

Abstract: This disclosure provides systems and methods for sample processing and data analysis. Sample processing may include nucleic acid sample processing and subsequent sequencing. Some or all of a nucleic acid sample may be sequenced to provide sequence information, which may be stored or otherwise maintained in an electronic storage location. The sequence information may be analyzed with the aid of a computer processor, and the analyzed sequence information may be stored in an electronic storage location that may include a pool or collection of sequence information and analyzed sequence information generated from the nucleic acid sample. Methods and systems of the present disclosure can be used, for example, for the analysis of a nucleic acid sample, for producing one or more libraries, and for producing biomedical reports. Methods and systems of the disclosure can aid in the diagnosis, monitoring, treatment, and prevention of one or more diseases and conditions.

Abstract: This disclosure provides systems and methods for sample processing and data analysis. Sample processing may include nucleic acid sample processing and subsequent sequencing. Some or all of a nucleic acid sample may be sequenced to provide sequence information, which may be stored or otherwise maintained in an electronic storage location. The sequence information may be analyzed with the aid of a computer processor, and the analyzed sequence information may be stored in an electronic storage location that may include a pool or collection of sequence information and analyzed sequence information generated from the nucleic acid sample. Methods and systems of the present disclosure can be used, for example, for the analysis of a nucleic acid sample, for producing one or more libraries, and for producing biomedical reports. Methods and systems of the disclosure can aid in the diagnosis, monitoring, treatment, and prevention of one or more diseases and conditions.

Abstract: The invention provides novel disease-associated genes and polypeptides encoded by those genes. The invention also provides expression vectors, host cells, antibodies, agonists, and antagonists. The invention also provides methods for diagnosing, treating or preventing diseases.

Abstract: Composite hybridization arrays and averaged hybridization arrays are provided. Composite hybridization arrays are formed from a user selected set of hybridization arrays, and once instantiated in a hybridization array database, are available for searching, analysis, and other data processing as with other types of hybridization arrays. This allows otherwise experiments using multiple different nucleotide microarrays to be efficiently consolidated and analyzed. Averaged hybridization arrays provided correctly averaged values from multiple user selected dual channel hybridization arrays.

Abstract: Using data electrophoretic trace data from conventional nucleic acid sequencing equipment, a method for base calling that is tolerant to variable peak spacing is described. The method generates high-quality basecalls and reliable quality scores. In addition, a new type of quality score that estimates the probability of a deletion error between the current and the following basecall is described. A new protocol for benchmarking that better discerns basecaller performance is also provided.

Abstract: Composite hybridization arrays and averaged hybridization arrays are provided. Composite hybridization arrays are formed from a user selected set of hybridization arrays, and once instantiated in a hybridization array database, are available for searching, analysis, and other data processing as with other types of hybridization arrays. This allows otherwise experiments using multiple different nucleotide microarrays to be efficiently consolidated and analyzed. Averaged hybridization arrays provided correctly averaged values from multiple user selected dual channel hybridization arrays.