PATENT CLAIM ANALYSIS

Application Number: 15978848
Application Type: Utility
Filing Date: 2018-05
Publication Date: 2018-11
Patent Classification: ["702", "190000"]

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 23):
A system comprising:\n a communication interface that receives, over a communication network, sequencing reads comprising cfDNA molecule sequences and non-unique molecular barcode sequences generated by a nucleic acid sequencer; and a computer in communication with the nucleic acid sequencer over a communication network, wherein the computer comprises one or more computer processors and a computer readable medium comprising non-transitory machine-executable code that, upon execution by the one or more computer processors, reduces noise and distortion in the signal by:\n (i) receiving, over the communication network, the sequencing reads generated by the nucleic acid sequencer; \n (ii) mapping the sequence reads to one or more reference sequences from a human genome; \n (iii) grouping the sequence reads into families, each of the families comprising sequence reads comprising identical barcodes and having the same start and stop positions, wherein each of the families comprises sequencing reads corresponding to a same original cell free deoxyribonucleic acid (cfDNA) molecule from the cfDNA molecules; \n (iv) at each genetic locus of a plurality of genetic loci in the one or more reference sequences:\n (1) collapsing sequence reads in each family to yield a base call for each family at the genetic locus; and measuring a frequency of one or more bases called at the locus from among the families; and \n (2) counting families mapping to each genetic locus of a plurality of genetic loci.

Metadata:
- Claim Count in Document: 36.0
- Percentile: 93.0
- Lexical Diversity: 1.84286
- Patent Class: 702.0
- Transitional Phrase Type: open
- Component Type: 1
- Foreign Priority: False
- Related Applications: ['15076565', '15492659', '15872831', '14712754', '14425189']

Analysis Scores:
- 35 USC 101 Eligibility (BERT): 0.3007440682750982
- 35 USC 102 Novelty (BERT): 0.6134361768855217
- Combined Prediction Score: 0.3320132791361405
- Mean Citation Score: 528.6154779999998
- Max Citation Score: 563.8807
- Similarity Product: 333.0137657822013

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

Dataset: test