METHODS FOR DETECTING FETAL NUCLEIC ACIDS AND DIAGNOSING FETAL ABNORMALITIES
First Claim
1. A method for identifying a fetal abnormality, the method comprising:
- obtaining a maternal sample;
sequencing at least a portion of nucleic acids in the sample to obtain sequence information;
determining an amount of GC bias in the sequence information, wherein the determining comprises;
partitioning the genome into bins; and
measuring a correlation between a number of counts in each bin and its GC content, wherein a statistically significant negative or positive correlation indicates existence of GC bias;
correcting the sequence information to account for the GC bias;
comparing corrected sequence information to a reference sequence;
identifying fetal nucleic acid in the sample;
determining whether the fetus has an abnormality from the fetal nucleic acid sequence.
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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.
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Citations
15 Claims
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1. A method for identifying a fetal abnormality, the method comprising:
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obtaining a maternal sample; sequencing at least a portion of nucleic acids in the sample to obtain sequence information; determining an amount of GC bias in the sequence information, wherein the determining comprises; partitioning the genome into bins; and measuring a correlation between a number of counts in each bin and its GC content, wherein a statistically significant negative or positive correlation indicates existence of GC bias; correcting the sequence information to account for the GC bias; comparing corrected sequence information to a reference sequence; identifying fetal nucleic acid in the sample; determining whether the fetus has an abnormality from the fetal nucleic acid sequence. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15)
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Specification