Information om | Engelska ordet EXOME

Exempel på hur man kan använda EXOME i en mening

• Mendelian forms of myopia has been identified in four consanguineous families and are the likely causal mutations implementing exome /autozygome investigated to recognize homozygous truncating variants in LRPAP1.
• Clinical guidelines exist that can guide dosing of simvastatin based on SLCO1B1 gene variant using genotyping or whole exome sequencing.
• William Harbour and colleagues published a landmark article in Science, in which they used exome sequencing of patient tumor samples and identified inactivating mutations in BAP1 in 47% of uveal melanomas.
• By means of exome sequencing, two variants - P377A and V231I on the SAMM50 gene were determined to have a potential relationship to the disease phenotype of Ezra, 9 year old male with Epilepsy, ESES, Hemiplegic Migraine, Exocrine Pancreatic Insuffiency, CSID, Global Apraxia, developmental regressions.
• Hyperuricemia cosegregating with osteogenesis imperfecta has been shown to be associated with a mutation in GPATCH8 using exome sequencing.
• Cancer genome sequencing is not limited to WG sequencing and can also include exome, transcriptome, micronome sequencing, and end-sequence profiling.
• Gain-of-function variants in CARD9 appear to be associated to fibromyalgia, and possibly the comorbidities constipation, Irritable bowel syndrome and other psychosomatic sequelæ in the UK biobank association between exome sequences and health data.
• This condition can be diagnosed through genetic testing methods such as whole exome sequencing or targeted sequencing of the ST3GAL5 gene for mutations, MRIs, electroencephalograms, IQ tests, and physical examination.

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