EP 4381512 A1 20240612 - SOMATIC VARIANT COOCCURRENCE WITH ABNORMALLY METHYLATED FRAGMENTS
Title (en)
SOMATIC VARIANT COOCCURRENCE WITH ABNORMALLY METHYLATED FRAGMENTS
Title (de)
KOOKKURRENZ SOMATISCHER VARIANTEN MIT ABNORMAL METHYLIERTEN FRAGMENTEN
Title (fr)
COOCCURRENCE DE VARIANT SOMATIQUE AVEC DES FRAGMENTS ANORMALEMENT MÉTHYLÉS
Publication
Application
Priority
- US 202163229797 P 20210805
- US 2022074523 W 20220804
Abstract (en)
[origin: CN118043892A] Systems and methods for identifying variant alleles as somatic cells or germlines are provided. Reference alleles and variant alleles of genomic locations are identified. The methylation status and sequence of the nucleic acid fragment sequence mapped to the genomic location are obtained from a sample of the subject. Using these of the nucleic acid fragment sequences, each nucleic acid fragment sequence having the reference allele is assigned to a reference subset, and each nucleic acid fragment sequence having the variant allele is assigned to a variant subset. An indication of one or more methylation statuses on the nucleic acid fragment sequences in the variant subset and an indication of the number of nucleic acid fragment sequences in the reference subset relative to the variant subset are applied to a trained binary classifier. An identification of the variant allele at the genomic location as a somatic cell or germline is obtained from the classifier.
IPC 8 full level
G16B 20/20 (2019.01); G16B 40/20 (2019.01)
CPC (source: EP IL)
C12Q 1/6869 (2013.01 - IL); C12Q 1/6886 (2013.01 - IL); G06N 3/045 (2023.01 - IL); G06N 3/084 (2013.01 - IL); G06N 20/00 (2019.01 - IL); G16B 20/10 (2019.02 - IL); G16B 20/20 (2019.02 - EP IL); G16B 30/10 (2019.02 - IL); G16B 40/00 (2019.02 - IL); G16B 40/20 (2019.02 - EP IL); G16H 10/40 (2018.01 - IL); G16H 50/20 (2018.01 - IL); C12Q 2600/112 (2013.01 - IL); C12Q 2600/154 (2013.01 - IL)
Designated contracting state (EPC)
AL AT BE BG CH CY CZ DE DK EE ES FI FR GB GR HR HU IE IS IT LI LT LU LV MC MK MT NL NO PL PT RO RS SE SI SK SM TR
Designated extension state (EPC)
BA ME
Designated validation state (EPC)
KH MA MD TN
DOCDB simple family (publication)
DOCDB simple family (application)
CN 202280065265 A 20220804; EP 22761904 A 20220804