PATENT CLAIM ANALYSIS

Application Number: 16283629
Application Type: Utility
Filing Date: 2019-02
Publication Date: 2019-06
Patent Classification: ["435", "006100"]

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 31):
A method for detecting somatic genetic variants of cell-free deoxyribonucleic acid (DNA) in a human subject, the method comprising:\n a) obtaining 10 to 100 nanograms (ng) of double-stranded cell-free DNA from a blood sample from the human subject; b) ligating an adapter having a molecular barcode to ends of a plurality of the double-stranded cell-free DNA to produce tagged parent polynucleotides, wherein the molecular barcode is a member of a set of 5-100 molecular barcodes, wherein the molecular barcodes are at least 5-20 nucleotides in length; c) amplifying a plurality of the tagged parent polynucleotides to produce progeny polynucleotides with associated molecular barcodes; d) selectively enriching the progeny polynucleotides for 50 or more target regions associated with cancer, whereby enriched progeny polynucleotides are generated; e) sequencing a portion of the enriched progeny polynucleotides to produce sequencing reads of the progeny polynucleotides with associated molecular barcodes; f) aligning mappable portions of the sequencing reads to a human reference genome; g) grouping the sequencing reads into families based on the sequence information of the molecular barcodes and the beginning and end base positions of the mapped portion of the progeny polynucleotides; and h) detecting, from among the families, the presence or absence of one or more somatic genetic variants comprising a single nucleotide variant (SNV), a copy number variation (CNV), an insertion or deletion (indel), and gene fusion.

Metadata:
- Claim Count in Document: 89.0
- Percentile: 99.0
- Lexical Diversity: 1.84286
- Patent Class: 435.0
- Transitional Phrase Type: open
- Component Type: 1
- Foreign Priority: False
- Related Applications: ['16277712', '16283635', '15872831', '15978848', '14712754']

Analysis Scores:
- 35 USC 101 Eligibility (BERT): 0.7065210556026288
- 35 USC 102 Novelty (BERT): 0.6489472769963697
- Combined Prediction Score: 0.7007636777420029
- Mean Citation Score: 560.532898
- Max Citation Score: 591.4164400000002
- Similarity Product: 454.1044734470131

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

Dataset: test