Emilie M. Wigdor

A unified framework for quantitative splicing and transcript prediction

This paper introduces SpliceAI2, a deep learning model that improves identification and quantification of splice-altering variants and their effects on transcripts and disease.

The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration

The paper establishes a global consortium to discover rare genetic associations by integrating data from multiple biobanks, identifying 514 gene-trait associations, many detectable only through cross-ancestry meta-analysis.

Modeling rare coding variation on chromosome X provides insight into the genetics and differential sex prevalence of autism spectrum disorder

The paper develops a model to analyze X-linked rare variation in ASD, identifying 9 genes associated with ASD and explaining how X-linked variation could contribute to sex-differential prevalence.

Molecular dynamics of Brodmann Area 22 in development and autism

The paper identifies transcriptional and epigenomic differences in Brodmann Area 22 in autism, linking them to RFX3-dependent networks and verbal ability.

Genome-scale functional mapping of the mammalian whole brain with in vivo Perturb-seq

The paper maps gene expression responses to loss of 1,947 disease-associated genes across the mouse brain using Perturb-seq, revealing cell-type-specific essentiality and transcriptional programs.

Disruption of Cell-Type-Specific Molecular Programs of Medium Spiny Neurons in Autism

The paper identifies cell-type-specific molecular and regulatory changes in D1 striosome medium spiny neurons and astrocytes in ASD using single-nucleus multiomic profiling in human putamen.

Substantial role of rare inherited variation in individuals with developmental disorders

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.

Genome-wide association meta-analysis of age at onset of walking

This paper conducts a genome-wide association meta-analysis of age at onset of walking, identifying 11 loci and showing genetic correlations with ADHD, BMI, intelligence, and brain structure.

Dissecting the contribution of common variants to risk of rare neurodevelopmental conditions

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

AlphaMissense is better correlated with functional assays of missense impact than earlier prediction algorithms

AlphaMissense shows strong correlation with functional assays of missense variants but has modest improvement over other predictors.

Federated analysis of the contribution of recessive coding variants to 29,745 developmental disorder patients from diverse populations

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.

Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders

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.

Analysis of genetic dominance in the UK Biobank

The paper evaluates dominance effects in over 1,000 UK Biobank phenotypes using GWAS, finding no significant dominance contribution to phenotypic variance from common variation.

The genetics of cortical organisation and development: a study of 2,347 neuroimaging phenotypes

GWAS of 2,347 neuroimaging phenotypes identifies genetic loci and structures related to cortical development, cellular processes, and neurodevelopmental disorders.

The female protective effect against autism spectrum disorder

The paper investigates the female protective effect against autism spectrum disorder by analyzing genetic risk in siblings and parents of ASD cases, finding evidence of sex differences in inherited genetic risk.

The Polygenic and Monogenic Basis of Blood Traits and Diseases

This study identifies 5,106 new genetic variants associated with blood cell traits using large-scale GWAS, highlighting the polygenic and monogenic basis of hematopoiesis.

Paternal-age-related de novo mutations and risk for five disorders

The paper estimates the risk of five disorders from paternal-age-related de novo mutations using whole-exome-sequencing data and Danish registry data.

ASD and ADHD have a similar burden of rare protein-truncating variants

The paper investigates the genetic burden of rare protein-truncating variants in ASD and ADHD, finding similar patterns of enrichment.

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

The paper uses polygenic transmission disequilibrium to show common and rare variants act additively in autism risk, with polygenic risk over-transmitted to ASD cases but not unaffected siblings.