Aniko Sabo
A5080886480- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Cancer Genomics and Diagnostics
- Genetic Associations and Epidemiology
- Sarcoma Diagnosis and Treatment
- Pediatric Hepatobiliary Diseases and Treatments
- Nematode management and characterization studies
- Genetic and Kidney Cyst Diseases
- RNA modifications and cancer
- Cancer-related molecular mechanisms research
- Gallbladder and Bile Duct Disorders
- Genomics and Phylogenetic Studies
- Peroxisome Proliferator-Activated Receptors
- Hemoglobinopathies and Related Disorders
- Pancreatic function and diabetes
- Nutrition, Genetics, and Disease
- Epigenetics and DNA Methylation
- Parasite Biology and Host Interactions
- Intestinal Malrotation and Obstruction Disorders
- Viral-associated cancers and disorders
- Genetic and phenotypic traits in livestock
- Biomedical Text Mining and Ontologies
- Iron Metabolism and Disorders
Baylor College of Medicine
2015-2025
Iuliu Hațieganu University of Medicine and Pharmacy
2025
Baylor Genetics
2013-2024
University of Toronto
2022
Hospital for Sick Children
2022
SickKids Foundation
2022
University of Washington
2007
Washington University in St. Louis
2004-2007
Texas Biomedical Research Institute
2007
Purdue University West Lafayette
2006
The rhesus macaque (Macaca mulatta) is an abundant primate species that diverged from the ancestors of Homo sapiens about 25 million years ago. Because they are genetically and physiologically similar to humans, monkeys most widely used nonhuman in basic applied biomedical research. We determined genome sequence Indian-origin Macaca mulatta female compared data with chimpanzees humans reveal structure ancestral genomes identify evidence for positive selection lineage-specific expansions...
Escherichia coli is a model laboratory bacterium, species that widely distributed in the environment, as well mutualist and pathogen its human hosts. As such, E. represents an attractive organism to study how environment impacts microbial genome structure function. Uropathogenic (UPEC) must adapt life several communities body, has complex cycle bladder when it causes acute or recurrent urinary tract infection (UTI). Several studies designed identify virulence factors have focused on genes...
Abstract Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by combination of rare de novo and inherited variants as well common in at least several hundred genes. However, significantly larger sample sizes are needed to identify the complete set genetic risk factors. We conducted pilot study for SPARK (SPARKForAutism.org) 457 families with ASD, all consented online. Whole exome sequencing (WES) genotyping data were generated each family using DNA from saliva....
Accurately determining the distribution of rare variants is an important goal human genetics, but resequencing a sample large enough for this purpose has been unfeasible until now. Here, we applied Sanger sequencing genomic PCR amplicons to resequence diabetes-associated genes KCNJ11 and HHEX in 13,715 people (10,422 European Americans 3,293 African Americans) validated potentially harbouring using 454 pyrosequencing. We observed far more variation (expected variant-site count ∼578) than...
Autism spectrum disorders (ASDs) are a heterogeneous group of neuro-developmental disorders. While significant progress has been made in the identification genes and copy number variants associated with syndromic autism, little is known to date about etiology idiopathic non-syndromic autism. Sanger sequencing 21 autism susceptibility 339 individuals high-functioning, ASD revealed de novo mutations at least one these 6 probands (1.8%). Additionally, multiple events oligogenic heterozygosity...
Characterizing large genomic variants is essential to expanding the research and clinical applications of genome sequencing. While multiple data types methods are available detect these structural (SVs), they remain less characterized than smaller because SV diversity, complexity, size. These challenges exacerbated by experimental computational demands analysis. Here, we characterize content a personal with Parliament, publicly consensus SV-calling infrastructure that merges detection...
We report on results from whole-exome sequencing (WES) of 1,039 subjects diagnosed with autism spectrum disorders (ASD) and 870 controls selected the NIMH repository to be similar ancestry cases. The WES data came two centers using different methods produce sequence call variants it. Therefore, an initial goal was ensure distribution rare variation for centers. This proved straightforward by filtering called fraction missing data, read depth, balance alternative reference reads. Results were...
Several cancer-susceptibility syndromes are reported to underlie pediatric rhabdomyosarcoma (RMS); however, our knowledge there have been no systematic efforts characterize the heterogeneous genetic etiologies of this often-fatal malignancy.We performed exome-sequencing on germline DNA from 615 patients with newly diagnosed RMS consented through Children's Oncology Group. We compared prevalence cancer predisposition variants in 63 autosomal-dominant genes these population controls (n =...
Most genetic studies consider autism spectrum disorder (ASD) and developmental (DD) separately despite overwhelming comorbidity shared etiology. Here, we analyzed de novo variants (DNVs) from 15,560 ASD (6,557 SPARK) 31,052 DD trios independently also combined as broader neurodevelopmental disorders (NDDs) using three models. We identify 615 NDD candidate genes (false discovery rate [FDR] < 0.05) supported by ≥1 models, including 138 reaching Bonferroni exome-wide significance (P 3.64e-7) in...
Biliary atresia (BA) is the most common cause of end-stage liver disease in children and primary indication for pediatric transplantation, yet underlying etiologies remain unknown. Approximately 10% infants affected by BA exhibit various laterality defects (heterotaxy) including splenic abnormalities complex cardiac malformations-a distinctive subgroup commonly referred to as biliary malformation (BASM) syndrome. We hypothesized that genetic factors linking features with etiopathogenesis...
Importance Determining the impact of germline cancer-predisposition variants (CPVs) on outcomes could inform novel approaches to testing and treating children with rhabdomyosarcoma. Objective To assess whether CPVs are associated outcome among Design, Setting, Participants In this cohort study, data were obtained for individuals, aged 0.01-23.23 years, newly diagnosed rhabdomyosarcoma who treated across 171 Children’s Oncology Group sites from March 15, 1999, December 8, 2017. Data analysis...
Genetic studies of populations from the Indian subcontinent are great interest because India's large population size, complex demographic history, and unique social structure. Despite recent large-scale efforts in discovering human genetic variation, vast reservoir diversity remains largely unexplored.To analyze an unbiased sample India to investigate migration history Eurasia, we resequenced one 100-kb ENCODE region 92 samples collected three castes tribal group state Andhra Pradesh south...
Autism spectrum disorders are associated with some degree of developmental regression in up to 30% all cases. Rarely, however, is the so extreme that a developmentally advanced young child would lose almost ability communicate and interact her surroundings. We applied trio whole exome sequencing woman who experienced starting at 2.5 years age identified compound heterozygous nonsense mutations TMPRSS9, which encodes for polyserase-1, transmembrane serine protease poorly understood...