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SOPHiA Genetics (SOPH)

Utility
Methods for Detecting Copy-number Variations In Next-generation Sequencing
28 Apr 22
Copy Number Variants (CNV) detection methods may integrate CNV detection into workflow for next generation sequencer (NGS) data processing, in parallel with SNP and INDEL variant calling.
Dmitri IVANOV, Zhenyu XU
Filed: 20 Oct 21
Utility
Methods for Detecting Copy-number Variations In Next-generation Sequencing
31 Mar 22
Copy Number Variants (CNV) detection methods described herein may efficiently integrate CNV detection into the workflow for a next generation sequencer (NGS) data processing, in parallel with SNP and INDEL variant calling.
Dmitri IVANOV, Zhenyu XU
Filed: 20 Oct 21
Utility
Methods for Identifying Chromosomal Spatial Instability Such As Homologous Repair Deficiency In Low Coverage Next- Generation Sequencing Data
17 Mar 22
A genomic data analyzer may be configured to detect and characterize, with a machine learning model such as a trained convolutional neural network, the presence of a genomic instability in a tumor sample.
Christian Pozzorini, Gregoire Andre, Tommaso Coletta, Zhenyu Xu
Filed: 23 Nov 21
Utility
Method to Provide Personalized Medical Data
3 Feb 22
A method to provide personalized data of a patient includes obtaining at least one first personal data for a non-modifiable risk factor, obtaining at least one second personal data for a modifiable risk factor, and normalizing the first and second data using a lookup table, said normalized data representing an increase or decrease versus a neutral value.
David COX, Gilbert PERRIN
Filed: 28 Sep 19
Utility
Methods for Identifying Chromosomal Spatial Instability Such As Homologous Repair Deficiency In Low Coverage Next-generation Sequencing Data
27 Jan 22
A genomic data analyzer may be configured to detect and characterize, with a machine learning model such as a trained convolutional neural network, the presence of a genomic instability in a tumor sample.
Christian Pozzorini, Gregoire Andre, Tommaso Coletta, Zhenyu Xu
Filed: 27 Jul 21
Utility
Methods for Detecting Biallelic Loss of Function In Next-generation Sequencing Genomic Data
25 Nov 21
A genomic data analyzer maybe configured to detect and characterize, with a variant analysis module, biallelic genomic alterations for at least one gene in next generation sequencing variant calling information for patient tumor samples characterized by different purity ratios of somatic genomic material.
Christian POZZORINI, Zhenyu XU
Filed: 24 Jul 18
Utility
Methods for Asymmetric Dna Library Generation and Optionally Integrated Duplex Sequencing
14 Oct 21
Methods and products are disclosed for asymmetrically adapting fragmented nucleic acids for next generation sequencing, including providing strand identifier sequences and index sequences to identify the source strand and sample, respectively, of the fragmented nucleic acids.
Alisa ALEKSEENKO, Vicente Jose PELECHANO GARCIA
Filed: 28 Aug 19
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