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Aref-Eshghi et al., 2020 - Google Patents

Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders

Aref-Eshghi et al., 2020

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Document ID
2150197645641136640
Author
Aref-Eshghi E
Kerkhof J
Pedro V
Barat-Houari M
Ruiz-Pallares N
Andrau J
Lacombe D
Van-Gils J
Fergelot P
Dubourg C
Cormier-Daire V
Rondeau S
Lecoquierre F
Saugier-Veber P
Nicolas G
Lesca G
Chatron N
Sanlaville D
Vitobello A
Faivre L
Thauvin-Robinet C
Laumonnier F
Raynaud M
Alders M
Mannens M
Henneman P
Hennekam R
Velasco G
Francastel C
Ulveling D
Ciolfi A
Pizzi S
Tartaglia M
Heide S
Héron D
Mignot C
Keren B
Whalen S
Afenjar A
Bienvenu T
Campeau P
Rousseau J
Levy M
Brick L
Kozenko M
Balci T
Siu V
Stuart A
Kadour M
Masters J
Takano K
Kleefstra T
de Leeuw N
Field M
Shaw M
Gecz J
Ainsworth P
Lin H
Rodenhiser D
Friez M
Tedder M
Lee J
DuPont B
Stevenson R
Skinner S
Schwartz C
Genevieve D
Sadikovic B
Publication year
Publication venue
The American Journal of Human Genetics

External Links

Snippet

Genetic syndromes frequently present with overlapping clinical features and inconclusive or ambiguous genetic findings which can confound accurate diagnosis and clinical management. An expanding number of genetic syndromes have been shown to have …
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    • G06F19/18—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for functional genomics or proteomics, e.g. genotype-phenotype associations, linkage disequilibrium, population genetics, binding site identification, mutagenesis, genotyping or genome annotation, protein-protein interactions or protein-nucleic acid interactions
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12Q1/6876—Hybridisation probes
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    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12Q1/6802—General aspects
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    • C12Q1/02—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving viable micro-organisms

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