PREDICTING INSERT LENGTHS USING PRIMARY ANALYSIS METRICS

Number of patents in Portfolio can not be more than 2000

United States of America

APP PUB NO 20250111899A1
SERIAL NO

18899685

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Abstract

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This disclosure describes embodiments of methods, non-transitory computer readable media, and systems that can utilize one or more machine learning models to predict insert lengths of a sample genomic sequence from which nucleotide read pairs are sequenced. For example, the disclosed systems can generate predictions for insert lengths based on cluster metrics from primary analysis on a sequencing device, such as signal intensity. By applying a machine-learning-based insert length prediction model to process the cluster metrics, the disclosed systems generate a predicted insert length (e.g., a distribution or a mean). To determine cluster metrics, the disclosed systems can analyze data from oligonucleotide clusters and/or from a sample genomic sequence used to sequence nucleotide read pairs during primary analysis. Based on predicted insert lengths from cluster metrics, the disclosed systems can determine improved genotype calls for genomic samples, such as calls in genomic regions comprising tandem repeats or structural variants.

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Patent Owner(s)

Patent OwnerAddress
ILLUMINA INC5200 ILLUMINA WAY SAN DIEGO CA 92122

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Inventor(s)

Inventor Name Address # of filed Patents Total Citations
Gau, Jeffrey Fun-Shen San Mateo, US 2 1
Mehio, Rami San Diego, US 45 417
Parnaby, Gavin Derek Laguna Niguel, US 33 48
Ruehle, Michael Fort Worth, US 73 1296
Yuan, Jeffrey Long Island City, US 3 9

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