PATENT CLAIM ANALYSIS

Application Number: 16283635
Application Type: Utility
Filing Date: 2019-02
Publication Date: 2019-06
Patent Classification: ["435", "006120"]

Abstract:
The present disclosure provides a system and method for the detection of rare mutations and copy number variations in cell free polynucleotides. Generally, the systems and methods comprise sample preparation, or the extraction and isolation of cell free polynucleotide sequences from a bodily fluid; subsequent sequencing of cell free polynucleotides by techniques known in the art; and application of bioinformatics tools to detect rare mutations and copy number variations as compared to a reference. The systems and methods also may contain a database or collection of different rare mutations or copy number variation profiles of different diseases, to be used as additional references in aiding detection of rare mutations, copy number variation profiling or general genetic profiling of a disease.

Claim (Index 1):
A method for detecting copy number variation comprising:\n a. sequencing extracellular polynucleotides from a bodily sample from a subject, wherein each of the extracellular polynucleotide generate a plurality of sequencing reads; b. filtering out reads that fail to meet a set threshold; c. mapping the sequence reads obtained from step (a), after reads are filtered out, to a reference sequence; d. quantifying or enumerating mapped reads in two or more predefined regions of the reference sequence; and e. determining copy number variation in one or more of the predefined regions by:\n i. normalizing number of reads in the predefined regions to each other and/or the number of unique sequence reads in the predefined regions to one another; \n ii. comparing the normalized numbers obtained in step (i) to normalized numbers obtained from a control sample.

Metadata:
- Claim Count in Document: 2.0
- Percentile: 99.0
- Lexical Diversity: 1.84286
- Patent Class: 435.0
- Transitional Phrase Type: open
- Component Type: 1
- Foreign Priority: False
- Related Applications: ['15467570', '14425189', '15872831', '15492659', '16283629']

Analysis Scores:
- 35 USC 101 Eligibility (BERT): 0.6466427465842888
- 35 USC 102 Novelty (BERT): 0.5917354758820633
- Combined Prediction Score: 0.6411520195140663
- Mean Citation Score: 496.41309400000006
- Max Citation Score: 510.34192
- Similarity Product: 484.4775270605661

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