Publications by authors named "Alison Frith"
Article Synopsis
- Effective genetic diagnosis relies on linking genetic data to detailed clinical information, but manual data entry is time-consuming and prone to bias.
- Natural language processing (NLP) can streamline this process, but variations in physician notes pose challenges; our methods improve NLP outputs for more accurate automatic diagnosis.
- We developed a filtering system that enhances gene prioritization by using optimized extracted terms, showing that in 92% of cases, NLP could replace manual extraction, and in 75% of cases, we ranked the correct gene higher with filters applied.
By informing timely targeted treatments, rapid whole-genome sequencing can improve the outcomes of seriously ill children with genetic diseases, particularly infants in neonatal and pediatric intensive care units (ICUs). The need for highly qualified professionals to decipher results, however, precludes widespread implementation. We describe a platform for population-scale, provisional diagnosis of genetic diseases with automated phenotyping and interpretation.
View Article and Find Full Text PDFBackground: In 2016, a large meta-analysis brought the number of susceptibility loci for migraine to 38. While sub-type analysis for migraine without aura (MO) and migraine with aura (MA) found some loci showed specificity to MO, the study did not test the loci with respect to other subtypes of migraine. This study aimed to test the hypothesis that single nucleotide polymorphisms (SNPs) robustly associated with migraine are individually or collectively associated with menstrual migraine (MM).
View Article and Find Full Text PDFMigraine is a common, disabling headache disorder, which is influenced by multiple genes and environmental triggers. After puberty, the prevalence of migraine in women is three times higher than in men and >50% of females suffering from migraine report a menstrual association, suggesting hormonal fluctuations can influence the risk of migraine attacks. It has been hypothesized that the drop in estrogen during menses is an important trigger for menstrual migraine.
View Article and Find Full Text PDFBackground: Menstrual migraine (MM) encompasses pure menstrual migraine (PMM) and menstrually-related migraine (MRM). This study was aimed at investigating genetic variants that are potentially related to MM, specifically undertaking genotyping and mRNA expression analysis of the ESR1, PGR, SYNE1 and TNF genes in MM cases and non-migraine controls.
Methods: A total of 37 variants distributed across 14 genes were genotyped in 437 DNA samples (282 cases and 155 controls).
A home-use fertility monitor was used to time perimenstrual prophylaxis in 27 women with menstrual or menstrually related migraine. Cycle length variability was mostly caused by follicular phase variability; the postovulatory luteal phase was relatively constant. The monitor accurately identified ovulation in >90% of cycles, enabling prediction of menstruation and precise timing of perimenstrual prophylaxis.
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