Sophia Cameron‐Christie
A5049830615- Genomics and Rare Diseases
- Pediatric Hepatobiliary Diseases and Treatments
- Genetic Associations and Epidemiology
- Congenital Anomalies and Fetal Surgery
- Epigenetics and DNA Methylation
- Gallbladder and Bile Duct Disorders
- Genetic diversity and population structure
- Bone Metabolism and Diseases
- Cancer-related gene regulation
- Asthma and respiratory diseases
- Archaeology and ancient environmental studies
- Connective tissue disorders research
- Genomics and Phylogenetic Studies
- Renal Diseases and Glomerulopathies
- IL-33, ST2, and ILC Pathways
- Molecular Biology Techniques and Applications
- RNA regulation and disease
- Fish biology, ecology, and behavior
- dental development and anomalies
- Forensic and Genetic Research
- Kruppel-like factors research
- Eosinophilic Esophagitis
- RNA Research and Splicing
- Infant Nutrition and Health
- Nuclear Structure and Function
University of California, Santa Barbara
2024
AstraZeneca (United Kingdom)
2019-2024
University of Otago
2015-2021
AstraZeneca (Sweden)
2020
Dunedin Public Hospital
2013
Exome sequencing is emerging as a first-line diagnostic method in some clinical disciplines, but its usefulness has yet to be examined for most constitutional disorders adults, including chronic kidney disease, which affects more than 1 10 persons globally.
Abstract Genome-wide association studies have uncovered thousands of common variants associated with human disease, but the contribution rare to disease remains relatively unexplored. The UK Biobank contains detailed phenotypic data linked medical records for approximately 500,000 participants, offering an unprecedented opportunity evaluate effect variation on a broad collection traits 1,2 . Here we study relationships between protein-coding and 17,361 binary 1,419 quantitative phenotypes...
Integrating human genomics and proteomics can help elucidate disease mechanisms, identify clinical biomarkers discover drug targets1-4. Because previous proteogenomic studies have focused on common variation via genome-wide association studies, the contribution of rare variants to plasma proteome remains largely unknown. Here we associations between protein-coding 2,923 protein abundances measured in 49,736 UK Biobank individuals. Our variant-level exome-wide study identified 5,433...
Telomeres protect chromosome ends from damage and their length is linked with human disease aging. We developed a joint telomere metric, combining quantitative PCR whole-genome sequencing measurements 462,666 UK Biobank participants. This metric increased SNP heritability, suggesting that it better captures genetic regulation of length. Exome-wide rare-variant gene-level collapsing association studies identified 64 variants 30 genes significantly associated length, including allelic series...
Significance Statement Studies have identified common CKD-associated gene variants, but the contribution of rare variants has not been systematically examined. The authors use exome sequencing and rare-variant collapsing analyses to compare genetic in 3150 cases (representing broad clinical CKD subtypes) with 9563 controls. For five known genes, they detected a significant enrichment PKD1 , PKD2 COL4A5 found suggestive evidence for COL4A3 COL4A4 variants. They also four other genes...
The Phoenicians emerged in the Northern Levant around 1800 BCE and by 9th century had spread their culture across Mediterranean Basin, establishing trading posts, settlements various European North African locations. Despite widespread influence, what is known of comes from was written about them Greeks Egyptians. In this study, we investigate extent Phoenician integration with Sardinian communities they settled. We present 14 new ancient mitogenome sequences pre-Phoenician (~1800 BCE)...
The etiology of dental anomalies is multifactorial; and genetic environmental factors that affect the lamina have been implicated. We investigated two families European ancestry in which males were affected by taurodontism, microdontia dens invaginatus. In both families, related to each other via unaffected females. A linkage analysis was conducted New Zealand family, followed exome sequencing focused X-chromosome. US X-chromosome Sanger conduct segregation analyses. identified independent...
To determine incidence and outcome of biliary atresia (BA) between ethnic groups in New Zealand (NZ), a retrospective review was undertaken children with BA born 2002 2014. Prioritized ethnicity used to compared population data. Uni- multivariate analyses were demographic biochemical factors associated outcome. Overall 1 9181 (Māori 5285; European 16,228; P < 0.0001). transplant-free survival rates at 1, 2, 5 years 92%, 86%, 82% 70%, 49%, 30% respectively Māori having improved (P 0.05)...
Biliary atresia (BA), a fibrosing disorder of the developing biliary tract leading to liver failure in infancy, has an elevated incidence indigenous New Zealand (NZ) Māori. We investigated high rate BA group children (n = 12) belonging single Māori iwi (or 'tribe', related through remote ancestor). Population and geographical data was used estimate sub-groups, pedigree linking most affected constructed from oral documented history. Array genotyping examine hypotheses about inheritance...
Abstract Introduction Asthma risk is a complex interplay between genetic susceptibility and environment. Despite many significantly-associated common variants, the contribution of rarer variants with potentially greater effect sizes has not been as extensively studied. We present an exome-based study adopting 24,576 cases 120,530 controls to assess rare protein-coding early-onset or all-comer asthma. Methods performed case-control analyses on three units: variant-, gene- pathway-level, using...
Abstract We present a highly resolved, species-rich food web, including parasitic interactions, for the California rocky intertidal zone. The web is comprised of 1809 nodes, representing 1845 taxa, and 13,222 links trophic interactions between nodes. While only 670 represent we have assembled possibly most speciose parasite-inclusive ever published. inclusion all nodes are justified using multiple lines evidence which built into dataset. In addition, metadata, strategy, taxonomic...
Tokelau is a remote archipelago of atolls in western Polynesia, located approximately 500 km north Samoa. It thought to have been settled as part the Austronesian expansion(s). However, its exact role this population dispersal not completely understood. Here we describe results complete mitochondrial genome sequencing for both current inhabitants and ancient individuals from addition an assessment Y-chromosome diversity among present population. We find relatively little genetic compared...