PATENT CLAIM ANALYSIS

Application Number: 16058849
Application Type: Utility
Filing Date: 2018-08
Publication Date: 2018-12
Patent Classification: ["702", "019000"]

Abstract:
The present invention provides processes for determining accurate risk probabilities for fetal aneuploidies. Specifically, the invention provides non-invasive evaluation of genomic variations through chromosome-selective sequencing and non-host fraction data analysis of maternal samples.

Claim (Index 5):
A process implemented by a program executed on a computer for computing a risk score for fetal aneuploidy in a maternal sample, the process steps comprising:\n interrogating a set of polymorphic loci in a maternal sample of a first and at least a second chromosome in an assay; comparing one or more polymorphic loci of the set of polymorphic loci that are different in maternal DNA and fetal DNA to measure a fetal proportion and a chromosome dosage for the first and at least the second chromosome; calculating a disomic model for a first fetal chromosome using an expected chromosome dosage of the first chromosome if the first fetal chromosome were disomic; multiplying the expected chromosome dosage of the first chromosome by an expected change in chromosome dosage if the first fetal chromosome were aneuploid based on the measured fetal proportion in the maternal sample, to create an aneuploid model reflecting an expected representation of the first fetal chromosome if the first fetal chromosome were aneuploid in the maternal sample; and computing the risk score for fetal aneuploidy of the first fetal chromosome by comparing the measured chromosome dosage for the first and at least second chromosome in the maternal sample to obtain an odds ratio of the disomic model versus the aneuploid model.

Metadata:
- Claim Count in Document: 16.0
- Percentile: 96.0
- Lexical Diversity: 1.16129
- Patent Class: 702.0
- Transitional Phrase Type: open
- Component Type: 1
- Foreign Priority: False
- Related Applications: ['13338963', '13274309', '13720273', '15243915', '13452083']

Analysis Scores:
- 35 USC 101 Eligibility (BERT): 0.2777932391069937
- 35 USC 102 Novelty (BERT): 0.7066148029924405
- Combined Prediction Score: 0.3206753954955384
- Mean Citation Score: 497.697584
- Max Citation Score: 772.97144
- Similarity Product: 751.6941972530893

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

Dataset: test