Katherine Tashman
A5026461891- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genetic Associations and Epidemiology
- RNA modifications and cancer
- Epilepsy research and treatment
- Bioinformatics and Genomic Networks
- Genomic variations and chromosomal abnormalities
- Genomics and Phylogenetic Studies
- CRISPR and Genetic Engineering
- Systemic Lupus Erythematosus Research
- Biomedical Text Mining and Ontologies
- Health, Environment, Cognitive Aging
- Delphi Technique in Research
- Genetic Mapping and Diversity in Plants and Animals
- Frailty in Older Adults
- Hip and Femur Fractures
- Nutrition, Genetics, and Disease
- Global Maternal and Child Health
- Genetic and phenotypic traits in livestock
- Meta-analysis and systematic reviews
- Mitochondrial Function and Pathology
- Liver Disease Diagnosis and Treatment
- Head and Neck Cancer Studies
- COVID-19 Impact on Reproduction
- Health Systems, Economic Evaluations, Quality of Life
Broad Institute
2019-2023
Massachusetts Eye and Ear Infirmary
2023
Harvard University
2022-2023
Dana-Farber/Harvard Cancer Center
2022
Harvard Global Health Institute
2022
Massachusetts General Hospital
2019-2021
Harvard University Press
2020
Cleveland Clinic Lerner College of Medicine
2020
Abstract Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences gene disruption: crucial for function an organism will be depleted such in natural populations, whereas non-essential tolerate their accumulation. However, predicted loss-of-function enriched annotation errors, and tend to found at extremely low frequencies, so analysis requires careful variant very large sample sizes 1 . Here we describe aggregation 125,748...
Summary Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences gene disruption: critical for an organism’s function will be depleted such in natural populations, while non-essential tolerate their accumulation. However, predicted loss-of-function (pLoF) enriched annotation errors, and tend to found at extremely low frequencies, so analysis requires careful variant very large sample sizes 1 . Here, we describe aggregation...
ABSTRACT Genome-wide association studies (GWAS) are a valuable tool for understanding the biology of complex traits, but associations found rarely point directly to causal genes. Here, we introduce new method identify genes by integrating GWAS summary statistics with gene expression, biological pathway, and predicted protein-protein interaction data. We further propose an approach that effectively leverages both polygenic locus-specific genetic signals combining results across multiple...
Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure share genetic factors, we pooled CNV data from 10,590 individuals disorders, 16,109 clinically validated epilepsy, and 492,324 population controls identified 25 genome-wide significant loci, 22 of which novel such as deletions at 1p36.33, 1q44, 2p21-p16.3, 3q29, 8p23.3-p23.2, 9p24.3, 10q26.3, 15q11.2, 15q12-q13.1, 16p12.2, 17q21.31, duplications...
Abstract Cytogenic testing is routinely applied in most neurological centres for severe paediatric epilepsies. However, which characteristics of copy number variants (CNVs) confer epilepsy risk and subtypes carry the CNV burden, have not been explored on a genome-wide scale. Here, we present largest investigation to date with 10 712 European cases 6746 ancestry-matched controls. Patients genetic generalized epilepsy, lesional focal non-acquired developmental epileptic encephalopathy were...
Abstract S-LDSC is a widely used heritability enrichment method that has helped gain biological insights into numerous complex traits. It primarily been to analyze large annotations contain approximately 0.5% of SNPs or more. Here, we show in simulation that, when applied small annotations, the block jackknife-based significance testing does not always control type 1 error. We inflation error for due both noisiness jackknife estimate standard and non-normality regression coefficient...
Analyses of few gene-sets in epilepsy showed a potential to unravel key disease associations. We set out investigate the burden ultra-rare variants (URVs) comprehensive range biologically informed presumed be implicated epileptogenesis. The 12 URV types 92 was compared between cases and controls using whole exome sequencing data from individuals European descent with developmental epileptic encephalopathies (DEE, n = 1,003), genetic generalized (GGE, 3,064), or non-acquired focal (NAFE,...
The use of external controls in genome-wide association study (GWAS) can significantly increase the size and diversity control sample, enabling high-resolution ancestry matching enhancing power to detect signals. However, aggregation from multiple sources is challenging due batch effects, difficulty identifying genotyping errors different platforms. These obstacles have impeded GWAS lead spurious results if not carefully addressed. We propose a unified data harmonization pipeline that...
The impact of safety-net status, case volume, and outcomes among geriatric head neck cancer patients is unknown.Chi-square tests Student's t to compare surgery elderly between non-safety-net hospitals. Multivariable linear regressions determine predictors outcome variables including mortality index, ICU stays, 30-day readmission, total direct cost, cost index.Compared with hospitals, hospitals had a higher average index (1.04 vs. 0.32, p = 0.001), rate (1% 0.5%, 0.002), (p 0.001). A...
Objective The EuroQol 5‐Dimension (EQ‐5D) is a general health survey that quick to administer, widely used, and directly convertible utility values (HUV). We aim describe the five‐year EQ‐5D outcomes among patients who undergo surgical treatment for chronic rhinosinusitis (CRS). Study Design Prospective observational cohort study. Methods Patients with CRS completed questionnaire preoperatively annually five years following endoscopic sinus surgery. Paired t‐tests McNemar's tests were used...
Abstract Sequencing-based studies have identified novel risk genes for rare, severe epilepsies and revealed a role of rare deleterious variation in common epilepsies. To identify the shared distinct ultra-rare genetic factors epilepsies, we performed whole-exome sequencing (WES) analysis 9,170 epilepsy-affected individuals 8,364 controls European ancestry. We focused on three phenotypic groups; but developmental epileptic encephalopathies (DEE), commoner phenotypes generalized epilepsy (GGE)...
A bstract The use of external controls in genome-wide association study (GWAS) can significantly increase the size and diversity control sample, enabling high-resolution ancestry matching enhancing power to detect signals. However, aggregation from multiple sources is challenging due batch effects, difficulty identifying genotyping errors, different platforms. These obstacles have impeded GWAS lead spurious results if not carefully addressed. We propose a unified data harmonization pipeline...