A5029127195- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Genomic variations and chromosomal abnormalities
- Genetic Associations and Epidemiology
- RNA and protein synthesis mechanisms
- Molecular Biology Techniques and Applications
- Congenital heart defects research
- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Virology and Viral Diseases
- DNA Repair Mechanisms
- Animal Genetics and Reproduction
- Genetic Mapping and Diversity in Plants and Animals
- RNA Research and Splicing
- Reproductive Biology and Fertility
- Neuroendocrine regulation and behavior
- CRISPR and Genetic Engineering
- Advanced Numerical Analysis Techniques
- Bacterial Genetics and Biotechnology
University of California, San Diego
2018-2021
University of California, San Francisco
2016-2017
University of California, Santa Cruz
2014
Sexual dimorphism in common disease is pervasive, including a dramatic male preponderance autism spectrum disorders (ASDs). Potential genetic explanations include liability threshold model requiring increased polymorphism risk females, sex-limited X-chromosome contribution, gene-environment interaction driven by differences hormonal milieu, influenced genes sex-differentially expressed early brain development, or contribution from general mechanisms of sexual shared with secondary sex...
Short tandem repeats (STRs) are involved in dozens of Mendelian disorders and have been implicated complex traits. However, genotyping arrays used genome-wide association studies focus on single nucleotide polymorphisms (SNPs) do not readily allow identification STR associations. We leverage next-generation sequencing (NGS) from 479 families to create a SNP + reference haplotype panel. Our panel enables imputing genotypes into array data when NGS is available for directly STRs. Imputed...
Although gene-gene interaction, or epistasis, plays a large role in complex traits model organisms, genome-wide by searches for two-way interaction have limited power human studies. We thus used knowledge of biological pathway order to identify contribution epistasis autism spectrum disorders (ASDs) humans, reverse-pathway genetic approach. Based on previous observation increased ASD symptoms Mendelian the Ras/MAPK (RASopathies), we showed that common SNPs RASopathy genes show enrichment...
Autism Spectrum Disorder (ASD) is an early onset developmental disorder characterized by deficits in communication and social interaction restrictive or repetitive behaviors 1,2 . Family studies demonstrate that ASD has a significant genetic basis 3 with contributions both from inherited de novo variants. While the majority of variance liability to estimated arise common variation 4 , it been mutations may contribute 30% all simplex cases, which only single child affected per family 5 Tandem...
Abstract Short tandem repeats (STRs) are involved in dozens of Mendelian disorders and have been implicated a variety complex traits. However, existing technologies focusing on single nucleotide polymorphisms (SNPs) not allowed for systematic STR association studies. Here, we leverage next-generation sequencing data from 479 families to create SNP+STR reference haplotype panel genome-wide imputation STRs into SNP data. Imputation achieved an average 97% concordance between genotyped imputed...