Abstract: Disclosed is an interactive genome browser executing within a web browser application, configured to display patient genetic data and additional genetic data tracks which are aligned by base pair. Additional tracks may include public data, community data, private data, sequence gaps, and additional genetic tests or probes which are available. Tests or probes may be ordered by selecting them from a test or probe track. Data in a genetic information database may also be searched using the interactive genome browser. Analyzed patient data may be published and made available to a community of users, which may communicate with one another.

Abstract: Disclosed is an interactive genome browser executing within a web browser application, configured to display patient genetic data and additional genetic data tracks which are aligned by base pair. Additional tracks may include public data, community data, private data, sequence gaps, and additional genetic tests or probes which are available. Tests or probes may be ordered by selecting them from a test or probe track. Data in a genetic information database may also be searched using the interactive genome browser. Analyzed patient data may be published and made available to a community of users, which may communicate with one another.

Abstract: Techniques for allowing doctors and clinicians to upload genetic data associated with patients for comparison with previously-uploaded genetic data associated with other patients are described herein. These techniques may also allow doctors and clinicians to create notations associated with uploaded patient data. Both the previously-uploaded data as well as the created notations may be used by doctors and clinicians in attempting to diagnosis patients. That is, these techniques allow previously-acquired knowledge to be widely shared for the future benefit in attempting to detect genetic syndromes.

Abstract: Multiplex (+/?) stranded analyses, such as array comparative genomic hybridization (aCGH), are provided for detecting chromosomal rearrangements associated with cancer and other diseases. For example, an illustrative multiplex array for CGH includes discrete plus (+) strand and minus (?) strand DNA probes, complementary to each other but separable on the CGH array. The minus (?) strand DNA probes recover diagnostic information lost to conventional microarrays, since many genes transcribe from the minus (?) strand. In an illustrative system, patient and control DNA samples are prepared for CGH by amplification and labeling using comprehensive primers that generate both plus (+) strands and minus (?) strands of DNA in the samples. The breakpoints of a translocated chromosome may be detected on a multiplex microarray by DNA probes of one polarity, while DNA copy number changes associated with the translocation region may be detected by corresponding DNA probes of the complementary polarity.

Abstract: Methods and apparatuses for selecting and arranging clinically relevant chromosomal loci allow an exemplary diagnostic array to simultaneously test for numerous genetic alterations that occur in many different parts of the human genome. Clinically irrelevant or ineffective loci are eliminated. One implementation increases reliability and accuracy by dividing the base-pair sequence of each chromosomal locus into segments and then assigning nucleic acid clones for comparative genomic hybridization to each different segment. The segments may overlap for increased resolution and control. Clones representing segments that are adjacent on a native chromosome are placed in non-adjacent target areas of the array to avoid interfering hybridization reactions. Arrangement motifs within an array may be redundantly repeated for high availability and increased reliability and accuracy of results. Techniques, hardware, software, logic engines, loci collections, and diagnostic arrays are described.

Abstract: Disclosed is an interactive genome browser executing within a web browser application, configured to display patient genetic data and additional genetic data tracks which are aligned by base pair. Additional tracks may include public data, community data, private data, sequence gaps, and additional genetic tests or probes which are available. Tests or probes may be ordered by selecting them from a test or probe track. Data in a genetic information database may also be searched using the interactive genome browser. Analyzed patient data may be published and made available to a community of users, which may communicate with one another.

Abstract: Disclosed is an interactive genome browser executing within a web browser application, configured to display patient genetic data and additional genetic data tracks which are aligned by base pair. Additional tracks may include public data, community data, private data, sequence gaps, and additional genetic tests or probes which are available. Tests or probes may be ordered by selecting them from a test or probe track. Data in a genetic information database may also be searched using the interactive genome browser. Analyzed patient data may be published and made available to a community of users, which may communicate with one another.

Abstract: Methods and apparatuses for selecting and arranging clinically relevant chromosomal loci allow an exemplary diagnostic array to simultaneously test for numerous genetic alterations that occur in many different parts of the human genome. Clinically irrelevant or ineffective loci are eliminated. One implementation increases reliability and accuracy by dividing the base-pair sequence of each chromosomal locus into segments and then assigning nucleic acid clones for comparative genomic hybridization to each different segment. The segments may overlap for increased resolution and control. Clones representing segments that are adjacent on a native chromosome are placed in non-adjacent target areas of the array to avoid interfering hybridization reactions. Arrangement motifs within an array may be redundantly repeated for high availability and increased reliability and accuracy of results. Techniques, hardware, software, logic engines, loci collections, and diagnostic arrays are described.

Abstract: Methods and apparatuses for selecting and arranging clinically relevant chromosomal loci allow an exemplary diagnostic array to simultaneously test for numerous genetic alterations that occur in many different parts of the human genome. Clinically irrelevant or ineffective loci are eliminated. One implementation increases reliability and accuracy by dividing the base-pair sequence of each chromosomal locus into segments and then assigning nucleic acid clones for comparative genomic hybridization to each different segment. The segments may overlap for increased resolution and control. Clones representing segments that are adjacent on a native chromosome are placed in non-adjacent target areas of the array to avoid interfering hybridization reactions. Arrangement motifs within an array may be redundantly repeated for high availability and increased reliability and accuracy of results. Techniques, hardware, software, logic engines, loci collections, and diagnostic arrays are described.

Abstract: Methods and apparatuses for selecting and arranging clinically relevant chromosomal loci allow an exemplary diagnostic array to simultaneously test for numerous genetic alterations that occur in many different parts of the human genome. Clinically irrelevant or ineffective loci are eliminated. One implementation increases reliability and accuracy by dividing the base-pair sequence of each chromosomal locus into segments and then assigning nucleic acid clones for comparative genomic hybridization to each different segment. The segments may overlap for increased resolution and control. Clones representing segments that are adjacent on a native chromosome are placed in non-adjacent target areas of the array to avoid interfering hybridization reactions. Arrangement motifs within an array may be redundantly repeated for high availability and increased reliability and accuracy of results. Techniques, hardware, software, logic engines, loci collections, and diagnostic arrays are described.

Abstract: Methods and apparatuses for selecting and arranging clinically relevant chromosomal loci allow an exemplary diagnostic array to simultaneously test for numerous genetic alterations that occur in many different parts of the human genome. Clinically irrelevant or ineffective loci are eliminated. One implementation increases reliability and accuracy by dividing the base-pair sequence of each chromosomal locus into segments and then assigning nucleic acid clones for comparative genomic hybridization to each different segment. The segments may overlap for increased resolution and control. Clones representing segments that are adjacent on a native chromosome are placed in non-adjacent target areas of the array to avoid interfering hybridization reactions. Arrangement motifs within an array may be redundantly repeated for high availability and increased reliability and accuracy of results. Techniques, hardware, software, logic engines, loci collections, and diagnostic arrays are described.

Abstract: Methods and apparatuses for selecting and arranging clinically relevant chromosomal loci allow an exemplary diagnostic array to simultaneously test for numerous genetic alterations that occur in many different parts of the human genome. Clinically irrelevant or ineffective loci are eliminated. One implementation increases reliability and accuracy by dividing the base-pair sequence of each chromosomal locus into segments and then assigning nucleic acid clones for comparative genomic hybridization to each different segment. The segments may overlap for increased resolution and control. Clones representing segments that are adjacent on a native chromosome are placed in non-adjacent target areas of the array to avoid interfering hybridization reactions. Arrangement motifs within an array may be redundantly repeated for high availability and increased reliability and accuracy of results. Techniques, hardware, software, logic engines, loci collections, and diagnostic arrays are described.

Abstract: Control nucleic acids and their method of use to simultaneously test for numerous genetic alterations that involve an unbalanced arrangement of chromosomes. One implementation increases reliability and accuracy by adding additional nucleic acid to test and/or reference samples. Clones representing segments insensitive to chromosomal rearrangements are placed in non-adjacent target areas of a microarray to avoid interfering hybridization reactions.

Abstract: Techniques for allowing doctors and clinicians to upload genetic data associated with patients for comparison with previously-uploaded genetic data associated with other patients are described herein. These techniques may also allow doctors and clinicians to create notations associated with uploaded patient data. Both the previously-uploaded data as well as the created notations may be used by doctors and clinicians in attempting to diagnosis patients. That is, these techniques allow previously-acquired knowledge to be widely shared for the future benefit in attempting to detect genetic syndromes.

Abstract: Methods for diagnosing the presence or absence of a genetic disorder in a patient are provided, wherein the genetic disorder is associated with a chromosomal abnormality at 1q41q42 and/or 16p11.2p12.2, and wherein the genetic disorder is not Fryns syndrome or congenital diaphragmatic hernia (CDH). Materials, such as microarrays for use in microarray CGH, and kits for use in such methods are also provided.

Abstract: Subject matter includes design, synthesis, and propagation of synthetic and semi-synthetic reference nucleic acids and mixtures of reference nucleic acids for use in genetic tests, such as molecular screening, mutation testing, carrier testing, and diagnostic assays. In one implementation, methods are described for design, synthesis, and propagation of reference nucleic acid mixtures and a system is presented for using the mixtures.

Abstract: Control nucleic acids and their method of use to simultaneously test for numerous genetic alterations that involve an unbalanced arrangement of chromosomes. One implementation increases reliability and accuracy by adding additional nucleic acid to test and/or reference samples. Clones representing segments insensitive to chromosomal rearrangements are placed in non-adjacent target areas of a microarray to avoid interfering hybridization reactions.

Abstract: Subject matter includes design, synthesis, and propagation of synthetic and semi-synthetic reference nucleic acids and mixtures of reference nucleic acids for use in genetic tests, such as molecular screening, mutation testing, carrier testing, and diagnostic assays. In one implementation, methods are described for design, synthesis, and propagation of reference nucleic acid mixtures and a system is presented for using the mixtures.

Abstract: Methods and apparatuses for selecting and arranging clinically relevant chromosomal loci allow an exemplary diagnostic array to simultaneously test for numerous genetic alterations that occur in many different parts of the human genome. Clinically irrelevant or ineffective loci are eliminated. One implementation increases reliability and accuracy by dividing the base-pair sequence of each chromosomal locus into segments and then assigning nucleic acid clones for comparative genomic hybridization to each different segment. The segments may overlap for increased resolution and control. Clones representing segments that are adjacent on a native chromosome are placed in non-adjacent target areas of the array to avoid interfering hybridization reactions. Arrangement motifs within an array may be redundantly repeated for high availability and increased reliability and accuracy of results. Techniques, hardware, software, logic engines, loci collections, and diagnostic arrays are described.