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 2):
A method for detecting a rare mutation in a cell-free or substantially cell free sample obtained from a subject 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. performing multiplex sequencing on regions or whole-genome sequencing if enrichment is not performed; c. filtering out reads that fail to meet a set threshold; d. mapping sequence reads derived from the sequencing onto a reference sequence; e. identifying a subset of mapped sequence reads that align with a variant of the reference sequence at each mappable base position; f. for each mappable base position, calculating a ratio of (a) a number of mapped sequence reads that include a variant as compared to the reference sequence, to (b) a number of total sequence reads for each mappable base position; g. normalizing the ratios or frequency of variance for each mappable base position and determining potential rare variant(s) or mutation(s); and h. and comparing the resulting number for each of the regions with potential rare variant(s) or mutation(s) to similarly derived numbers from a reference 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): 0.6484251874124586
- 35 USC 102 Novelty (BERT): 0.5871913795663233
- Combined Prediction Score: 0.6423018066278451
- Mean Citation Score: 496.41309400000006
- Max Citation Score: 510.34192
- Similarity Product: 462.2009951299

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