Abstract: The invention generally relates to methods for analyzing nucleic acid sequence information. In some aspects, a sample is sequenced to obtain nucleic acid sequence information. In some aspects, an amount of GC bias in sequence information is determined. In some aspects, sequence information is corrected to account for the GC bias. In some aspects, corrected sequence information is analyzed.

Abstract: Disclosed are methods, compositions, and systems for classification of genetic variants of unknown significance (VUS). For example, disclosed is an in vitro method for assessing the functional effect of a somatic variation in a target sequence comprising obtaining a biological sample from a subject, performing a genotyping assay on the biological sample to identify a variant of unknown significance at a target sequence, generating a population of cells containing the nucleotide modification at the target sequence, and determining if the population of cells containing the nucleotide modification exhibit at least one different functional characteristic as compared to a population of cells not containing the nucleotide modification. The method may also include generating a database of the plurality of variants of unknown significance and comparing patient samples to the database to make diagnostic determinations and treatment decisions.

Abstract: Methods and systems are presented herein to distinguish children with Autism Spectrum Disorders (ASD) from those with other forms of developmental delay (DD) based on patterns of gene expression levels in blood.

Abstract: Methods and systems are presented herein to distinguish children with Autism Spectrum Disorders (ASD) from those with other forms of developmental delay (DD) based on patterns of gene expression levels in blood.

Abstract: The invention generally relates to methods for detecting fetal nucleic acids and methods for diagnosing fetal abnormalities. In certain embodiments, the invention provides methods for determining whether fetal nucleic acid is present in a maternal sample including obtaining a maternal sample suspected to include fetal nucleic acids, and performing a sequencing reaction on the sample to determine presence of at least a portion of a Y chromosome in the sample, thereby determining that fetal nucleic acid is present in the sample. In other embodiments, the invention provides methods for quantitative or qualitative analysis to detect fetal nucleic acid in a maternal sample, regardless of the ability to detect the Y chromosome, particularly for samples including normal nucleic acids from a female fetus.

Abstract: The invention generally relates to methods for detecting fetal nucleic acids and methods for diagnosing fetal abnormalities. In certain embodiments, the invention provides methods for determining whether fetal nucleic acid is present in a maternal sample including obtaining a maternal sample suspected to include fetal nucleic acids, and performing a sequencing reaction on the sample to determine presence of at least a portion of a Y chromosome in the sample, thereby determining that fetal nucleic acid is present in the sample. In other embodiments, the invention provides methods for quantitative or qualitative analysis to detect fetal nucleic acid in a maternal sample, regardless of the ability to detect the Y chromosome, particularly for samples including normal nucleic acids from a female fetus.

Abstract: This invention relates generally to diagnosing developmental disorders by detecting two or more genetic characteristics from a nucleic acid extracted from a sample taken from a patient. The genetic characteristics detected include nucleic acid expression profiles, nucleic acid sequences, and nucleic acid copy numbers. The genetic characteristics may be detected using sequencing technology, array based technology, or both. At least two genetic characteristics are compared to respective controls. From the comparison a diagnostic profile of a developmental disorder for the patient is formed.

Abstract: The invention generally relates to methods for determining a gene expression profile and for disease diagnosis. In certain aspects, methods of the invention involve obtaining a sample including somatic cells, transforming the somatic cells into target cells, and determining an expression profile from the target cells.

Abstract: The invention generally relates to methods for detecting fetal nucleic acids and methods for diagnosing fetal abnormalities. In certain embodiments, the invention provides methods for determining whether fetal nucleic acid is present in a maternal sample including obtaining a maternal sample suspected to include fetal nucleic acids, and performing a sequencing reaction on the sample to determine presence of at least a portion of a Y chromosome in the sample, thereby determining that fetal nucleic acid is present in the sample. In other embodiments, the invention provides methods for quantitative or qualitative analysis to detect fetal nucleic acid in a maternal sample, regardless of the ability to detect the Y chromosome, particularly for samples including normal nucleic acids from a female fetus.

Abstract: The invention generally relates to methods for detecting fetal nucleic acids and methods for diagnosing fetal abnormalities. In certain embodiments, the invention provides methods for determining whether fetal nucleic acid is present in a maternal sample including obtaining a maternal sample suspected to include fetal nucleic acids, and performing a sequencing reaction on the sample to determine presence of at least a portion of a Y chromosome in the sample, thereby determining that fetal nucleic acid is present in the sample. In other embodiments, the invention provides methods for quantitative or qualitative analysis to detect fetal nucleic acid in a maternal sample, regardless of the ability to detect the Y chromosome, particularly for samples including normal nucleic acids from a female fetus.

Abstract: The invention generally relates to methods for detecting fetal nucleic acids and methods for diagnosing fetal abnormalities. In certain embodiments, the invention provides methods for determining whether fetal nucleic acid is present in a maternal sample including obtaining a maternal sample suspected to include fetal nucleic acids, and performing a sequencing reaction on the sample to determine presence of at least a portion of a Y chromosome in the sample, thereby determining that fetal nucleic acid is present in the sample. In other embodiments, the invention provides methods for quantitative or qualitative analysis to detect fetal nucleic acid in a maternal sample, regardless of the ability to detect the Y chromosome, particularly for samples including normal nucleic acids from a female fetus.