Jacqueline I. Goldstein
A5054213549- Genetic Associations and Epidemiology
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Bioinformatics and Genomic Networks
- Congenital heart defects research
- Autism Spectrum Disorder Research
- SARS-CoV-2 and COVID-19 Research
- Gene expression and cancer classification
- Epigenetics and DNA Methylation
- Genetic Mapping and Diversity in Plants and Animals
- Blood disorders and treatments
- Attention Deficit Hyperactivity Disorder
- Genetic Syndromes and Imprinting
- Schizophrenia research and treatment
- Genomics and Chromatin Dynamics
- Diet and metabolism studies
- interferon and immune responses
- Genomics and Phylogenetic Studies
- Genetic factors in colorectal cancer
- Genetics, Bioinformatics, and Biomedical Research
- Diabetes and associated disorders
- Functional Brain Connectivity Studies
- Multiple Sclerosis Research Studies
- Liver Disease Diagnosis and Treatment
Massachusetts General Hospital
2014-2024
Broad Institute
2014-2024
Stanley Center for Psychiatric Research
2024
Harvard University
2012-2023
Athinoula A. Martinos Center for Biomedical Imaging
2021
Individual Differences
2021
Lundbeck Foundation
2017
Harvard University Press
2014
Icahn School of Medicine at Mount Sinai
2012
Genes overlap across psychiatric disease Many genome-wide studies have examined genes associated with a range of neuropsychiatric disorders. However, the degree to which genetic underpinnings these diseases differ or is unknown. Gandal et al. performed meta-analyses transcriptomic covering five major disorders and compared cases controls identify coexpressed gene modules. From this, they found that some share global expression patterns. This in polygenic traits may allow for better diagnosis...
Abstract Attention-Deficit/Hyperactivity Disorder (ADHD) is a highly heritable childhood behavioral disorder affecting 5% of school-age children and 2.5% adults. Common genetic variants contribute substantially to ADHD susceptibility, but no individual have been robustly associated with ADHD. We report genome-wide association meta-analysis 20,183 cases 35,191 controls that identifies surpassing significance in 12 independent loci, revealing new important information on the underlying biology...
Summary Large biobanks, such as the UK Biobank (UKB), enable massive phenome by genome-wide association studies that elucidate genetic etiology of complex traits. However, individuals from diverse ancestry groups are often excluded analyses due to concerns about population structure introducing false positive associations. Here, we generate mixed model associations and meta-analyses across groups, inclusive a larger fraction UKB than previous efforts, produce freely-available summary...
Gestational diabetes mellitus (GDM) is a common metabolic disorder affecting more than 16 million pregnancies annually worldwide
Abstract Summary: zCall is a variant caller specifically designed for calling rare single-nucleotide polymorphisms from array-based technology. This implemented as post-processing step after default algorithm has been applied. The uses the intensity profile of common allele homozygote cluster to define location other two genotype clusters. We demonstrate improved detection alleles when applying samples that have both Illumina Infinium HumanExome BeadChip and exome sequencing data available....
Abstract Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% children. Common genetic variants contribute substantially to ASD susceptibility, but date no individual have been robustly associated with ASD. With marked sample size increase from unique Danish population resource, we report genome-wide association meta-analysis 18,381 cases 27,969 controls that identifies five significant loci. Leveraging GWAS...
While germline copy-number variants (CNVs) contribute to schizophrenia (SCZ) risk, the contribution of somatic CNVs (sCNVs)-present in some but not all cells-remains unknown. We identified sCNVs using blood-derived genotype arrays from 12,834 SCZ cases and 11,648 controls, filtering at loci recurrently mutated clonal blood disorders. Likely early-developmental were more common (0.91%) than controls (0.51%, p = 2.68e-4), with recurrent deletions exons 1-5
Abstract Cognitive functions of individuals with psychiatric disorders differ from that the general population. Such cognitive differences often manifest early in life as differential school performance and have a strong genetic basis. Here we measured predictors 30,982 English, Danish mathematics via genome-wide association study (GWAS) studied their relationship risk for six major disorders. When decomposing into math language-specific performances, observed phenotypically genetically...
To identify novel coding association signals and facilitate characterization of mechanisms influencing glycemic traits type 2 diabetes risk, we analyzed 109,215 variants derived from exome array genotyping together with an additional 390,225 sequence in up to 39,339 normoglycemic individuals five ancestry groups. We identified a between the variant (p.Pro50Thr) AKT2 fasting plasma insulin (FI), gene which rare fully penetrant mutations are causal for monogenic disorders. The low-frequency...
Abstract Genome-wide association studies have successfully discovered thousands of common variants associated with human diseases and traits, but the landscape rare variation in disease has not been explored at scale. Exome sequencing population biobanks provide an opportunity to systematically evaluate impact coding across a wide range phenotypes discover genes allelic series relevant health disease. Here, we present results from systematic analyses 4,529 using single-variant gene tests...
Abstract The Variant Call Format (VCF) is widely used in genome sequencing but scales poorly. For instance, we estimate a 150,000 VCF would occupy 900 TiB, making it both costly and complicated to produce analyze. issue stems from VCF’s requirement densely represent reference-genotypes allele-indexed arrays. These requirements lead unnecessary data duplication and, ultimately, very large files. To address these challenges, introduce the Scalable Representation (SVCR). This representation...
Interpreting polygenic overlap between ADHD and both literacy-related language-related impairments is challenging as genetic associations might be influenced by indirectly shared factors. Here, we investigate risk multiple and/or abilities (LRAs), assessed in UK children (N ≤ 5919), accounting for genetically predictable educational attainment (EA). Genome-wide summary statistics on clinical years of schooling were obtained from large consortia 326,041). Our findings show that ADHD-polygenic...