PATENT CLAIM ANALYSIS

Application Number: 16389680
Application Type: Utility
Filing Date: 2019-04
Publication Date: 2019-10
Patent Classification: ["506", "002000"]

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 a somatic genetic variant in cell-free deoxyribonucleic acid (cfDNA) molecules from a blood sample in a human subject, the method comprising:\n (a) incubating between 1 nanogram (ng) to 100 ng of cfDNA molecules from the blood sample with at least an 80\u00d7 molar excess of a set of molecular barcodes relative to the plurality of cfDNA molecules to generate tagged parent polynucleotides, said set of molecular barcodes comprising from 2 to 1,000,000 different molecular barcodes having respective molecule barcode sequences,\n wherein the tagged parent polynucleotides comprises a cfDNA molecule and a respective molecular barcode pair attached thereon, the respective molecular barcode pair comprising a first molecular barcode attached to a first end of a cfDNA molecule from among the cfDNA molecules and a second molecular barcode attached to a second end of the cfDNA molecule, \n wherein at least some of the tagged parent polynucleotides have an identical molecular barcode pair with respect to one another, and \n wherein at least 20% of the cfDNA molecules are tagged with a corresponding molecular barcode pair; \n (b) amplifying a plurality of the tagged parent polynucleotides to produce progeny polynucleotides; (c) sequencing a subset of the progeny polynucleotides to produce a set of sequencing reads; (d) mapping a plurality of the sequencing reads to one or more reference sequences to produce mapped sequenced reads; (e) grouping a plurality of the mapped sequence reads into families based at least on the molecular barcode sequences of the molecular barcode pair and the beginning and end regions of the sequencing read that map to the one or more reference sequences, wherein a family comprises sequencing reads of progeny polynucleotides amplified from the same tagged parent polynucleotide; and (f) detecting, from among the families, the presence or absence of one or more somatic genetic variants comprising a single nucleotide variation (SNV), an insertion or deletion (indel), a copy number variation (CNV), or a gene fusion.

Metadata:
- Claim Count in Document: 89.0
- Percentile: 100.0
- Lexical Diversity: 1.84286
- Patent Class: 506.0
- Transitional Phrase Type: open
- Component Type: 1
- Foreign Priority: False
- Related Applications: ['16283635', '16277712', '16283629', '15076565', '15492659']

Analysis Scores:
- 35 USC 101 Eligibility (BERT): 0.6729317078288274
- 35 USC 102 Novelty (BERT): 0.6218571121022389
- Combined Prediction Score: 0.6678242482561685
- Mean Citation Score: 619.082214
- Max Citation Score: 646.71344
- Similarity Product: 536.3428450772095

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