Caroline Fiona Wright

The paper estimates whole-genome heritability of complex traits across diverse populations, finding rare and non-coding variants significantly contribute to heritability.

The paper shows inherited protein-truncating variants contribute to developmental disorders through partial gene expression loss, affecting ~20% of children with such variants.

The paper investigates missense spliceogenic variants (MSVs) using genomic and proteomic data, finding they are common and can cause disease through splicing disruption, often missed by protein-centric tools.

AlphaGenome Atlas predicts regulatory effects of non-coding variants across the human genome, improving their prioritization and interpretation.

This study estimates the prevalence and penetrance of heritable retinoblastoma in adult cohorts using genomic data and health records, finding lower penetrance than clinical cohorts.

The paper identifies equivalent gain-of-function variants in KCNK3 and KCNK9 that cause distinct channelopathies and investigates their functional effects on homomeric and heteromeric TASK channels.

The paper analyzes genome sequencing data from UK Biobank to assess the penetrance of COL1A1/2 pathogenic variants in OI, finding lower penetrance than expected.

Human Developmental Cell Atlas integrates ~4.6 million cells/nuclei from 4-22 post-conception weeks into 454 refined cell types and maps 114 spatial niches across 6PCW whole-embryo sections.

The paper estimates penetrance of SCID variants in a population cohort, finding low penetrance and suggesting SCID remains a strong candidate for genomic newborn screening.

This study uses whole-genome sequencing in 672,976 individuals to show rare and common variants converge in genetic associations for anthropometric traits, with ultra-rare variants explaining less than 10% of heritability.

The paper uses a federated approach to conditionally analyze genetic variants across biobanks, identifying LDL-C lowering effects of DNAJC13 haploinsufficiency and LDLR regulation.

The paper develops an automated pipeline to map genetic developmental disorder literature to Gene2Phenotype using NLP models, achieving high accuracy and scalability for biocuration.

The paper reduces error rates in population-scale whole-genome sequencing by applying genotype-level quality control, demonstrating its effectiveness using UK Biobank and All of Us datasets.

The paper investigates the role of rare inherited coding variants in developmental disorders by analyzing family and case/control data, finding significant burdens of damaging variants and estimating their population attributable risk.

The paper identifies cell-specific gene expression biases in excitatory neurons and microglia for pathogenic variants linked to speech/cognitive delay and seizures using single-nucleus RNA-seq data.

The paper characterizes expressed transcripts in the human cortex across development, identifying novel coding sequences with clinical relevance.

The paper identifies clustering patterns of loss-of-function variants in monogenic disease genes, linking them to incomplete penetrance and suggesting localized constraint metrics for variant interpretation.

The paper investigates how rare variants in monogenic developmental disorder genes interact with common variants to affect cognitive and socio-economic traits, finding that higher educational attainment polygenic scores can partially counterbalance adverse effects.

This study investigates how common genetic variants contribute to risk for rare neurodevelopmental conditions and examines indirect genetic effects through parental non-transmitted alleles.

The paper describes a structured curation process for the Gene2Phenotype project to systematically evaluate and organize genomic disease-gene relationships.

The paper evaluates CNV detection from exome sequencing in the DDD study, finding it has higher sensitivity than low-resolution CMA and comparable sensitivity to exon-resolution CMA.

The paper identifies homozygous loss of function variants in ZNF808 as a cause of pancreatic agenesis in humans, showing its role in repressing transposable elements during pancreatic development.

The paper uses whole-genome sequencing data from UK Biobank participants to identify rare non-coding variants and regions associated with circulating protein levels.

The paper evaluates clinical outcomes after genetic diagnosis in children with severe developmental disorders, finding that most families received condition-specific information and support.

The paper examines how family history affects cancer penetrance in individuals with pathogenic variants, finding higher risks with family history for BRCA1/2 and Lynch syndrome.

The paper quantifies the contribution of recessive coding variants to developmental disorders in diverse populations, identifying novel genes and highlighting challenges in interpreting missense variants.

This study uses whole-genome sequencing to identify mitochondrial DNA variants associated with mitochondrial disease traits in a large population, finding novel associations and lower penetrance in unselected individuals.

The paper investigates whether common cis-regulatory variants modify the penetrance of rare damaging coding variants in neurodevelopmental disorders using transcriptome-wide association and cis-eQTL analysis.

The paper identifies mosaic chromosomal alterations in children with developmental disorders using SNP array data from the DDD study, finding that many are tissue-specific and undetectable in blood.