PATENT CLAIM ANALYSIS

Application Number: 15917383
Application Type: Utility
Filing Date: 2018-03
Publication Date: 2018-07
Patent Classification: ["435", "006110"]

Abstract:
The present disclosure provides methods for determining the ploidy status of a chromosome in a gestating fetus from genotypic data measured from a mixed sample of DNA comprising DNA from both the mother of the fetus and from the fetus, and optionally from genotypic data from the mother and father. The ploidy state is determined by using a joint distribution model to create a plurality of expected allele distributions for different possible fetal ploidy states given the parental genotypic data, and comparing the expected allelic distributions to the pattern of measured allelic distributions measured in the mixed sample, and choosing the ploidy state whose expected allelic distribution pattern most closely matches the observed allelic distribution pattern. The mixed sample of DNA may be preferentially enriched at a plurality of polymorphic loci in a way that minimizes the allelic bias, for example using massively multiplexed targeted PCR.

Claim (Index 1):
A method for determining the probability of trisomy of a chromosome or chromosome segment of interest in the genome of a fetus, the method comprising:\n performing a multiplex amplification for at least 1000 loci in a single reaction, wherein the reaction comprises cell free DNA derived from maternal blood, maternal serum, or maternal plasma, and wherein the amplification comprises ligating oligonucleotides that hybridize to target sequences and amplifying the ligated oligonucleotides using PCR; performing microarray analysis to measure a quantity of DNA for each locus at a plurality of amplified loci on the chromosome or chromosome segment of interest; performing microarray analysis to measure a quantity of DNA for each allele at a plurality of amplified SNP loci on one or more chromosomes or chromosome segments expected to be disomic in the mother and the fetus, where the SNP loci comprise an allele present in the fetus but not the mother; estimating an amount of fetal DNA in the maternal blood, maternal serum, or maternal plasma using the quantity of each allele at the SNP loci and an expected quantity of each allele at the SNP loci for different fetal fractions; and determining the probability of trisomy of the chromosome or chromosome segment of interest using the quantity of the amplified DNA at the plurality of loci on the chromosome or chromosome segment of interest and the amount of fetal DNA in the maternal blood, maternal serum, or maternal plasma.

Metadata:
- Claim Count in Document: 44.0
- Percentile: 90.0
- Lexical Diversity: 2.01316
- Patent Class: 435.0
- Transitional Phrase Type: open
- Component Type: 1
- Foreign Priority: False
- Related Applications: ['13300235', '13791397', '14100928', '14446232', '14080656']

Analysis Scores:
- 35 USC 101 Eligibility (BERT): 0.6334278608191355
- 35 USC 102 Novelty (BERT): 0.6693009070011005
- Combined Prediction Score: 0.6370151654373319
- Mean Citation Score: 543.830408
- Max Citation Score: 630.0790400000002
- Similarity Product: 552.0782345423128

Labels:
- Claim Label 101: 0
- Claim Label 102: 1
- Claim Label 103: 1
- Claim Label 112: 1
- Combined Label: 0
- Label 101 Adjusted: 0

Dataset: test