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 9):
A method for determining the probability of trisomy for a chromosome or chromosome segment of interest in the genome of a fetus, the method comprising:\n a) performing a PCR and/or an allele-specific 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; b) performing microarray analysis to measure the amplified DNA to determine a quantity of each allele at a plurality of SNP loci on one or more chromosomes or chromosome segments expected to be disomic in both the mother and the fetus, where the SNP loci comprise an allele present in the fetus but not the mother; c) performing microarray analysis to measure genotypic measurements on the chromosome or chromosome segment of interest in the amplified DNA for alleles present in the mother and in the fetus; d) estimating an amount of fetal DNA 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 e) using the genotypic measurements on the chromosome or chromosome segment of interest, to determine the probability of trisomy for the chromosome or chromosome segment of interest.

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): 0.6338706957618081
- 35 USC 102 Novelty (BERT): 0.6681695885723711
- Combined Prediction Score: 0.6373005850428645
- Mean Citation Score: 543.830408
- Max Citation Score: 630.0790400000002
- Similarity Product: 548.0674051392175

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