A5044285543- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Biomedical Text Mining and Ontologies
- Genomic variations and chromosomal abnormalities
- Genetic factors in colorectal cancer
- Genetic Associations and Epidemiology
- Genetics, Bioinformatics, and Biomedical Research
- Ethics in Clinical Research
- Immunodeficiency and Autoimmune Disorders
- Congenital Ear and Nasal Anomalies
- Cancer-related Molecular Pathways
- Biomedical Ethics and Regulation
- Prenatal Screening and Diagnostics
- Artificial Intelligence in Healthcare
- Facial Nerve Paralysis Treatment and Research
- Healthcare Systems and Public Health
- Radiomics and Machine Learning in Medical Imaging
- Head and Neck Anomalies
- Congenital heart defects research
- Fetal and Pediatric Neurological Disorders
- Prostate Cancer Treatment and Research
- Metabolism, Diabetes, and Cancer
- Pectus Deformity Diagnosis and Treatment
- Hedgehog Signaling Pathway Studies
LabCorp (United States)
2024-2025
Invitae (United States)
2023-2025
National Human Genome Research Institute
2006-2023
National Institutes of Health
2006-2021
The Bronx Defenders
2013
In-Q-Tel
2013
National Society of Genetic Counselors
2013
Knowles (United States)
2013
Memorial Sloan Kettering Cancer Center
2004-2005
Variants of uncertain significance (VUSs) are rampant in clinical genetic testing, frustrating clinicians, patients, and laboratories because the uncertainty hinders diagnoses management. A comprehensive assessment VUSs across many disease genes is needed to guide efforts reduce uncertainty.To describe sources, gene distribution, population-level attributes evaluate impact different types evidence used reclassify them.This cohort study germline DNA variant data from individuals referred by...
ClinSeq is a pilot project to investigate the use of whole-genome sequencing as tool for clinical research. By piloting acquisition large amounts DNA sequence data from individual human subjects, we are fostering development hypothesis-generating approaches performing research in genomic medicine, including exploration issues related genetic architecture disease, implementation technology, informed consent, disclosure information, and archiving, analyzing, displaying data. In initial phase...
The 1997 discovery of free fetal DNA in maternal plasma launched clinical researchers' efforts to establish a reliable method for non-invasive prenatal testing genetic conditions. Various methods, including, but not limited to, massively parallel sequencing (MPS) and selective analysis cell-free plasma, have recently been developed as highly sensitive specific noninvasive screening tools common chromosome aneuploidies. Incorporating these new technologies into practice will impact the...
Kaphingst KA, Facio FM, Cheng M‐R, Brooks S, Eidem H, Linn A, Biesecker BB, LG. Effects of informed consent for individual genome sequencing on relevant knowledge. Increasing availability genomic information suggests that patients will need knowledge about to make decisions, but prior research is limited. In this study, we examined before and after among 311 participants enrolled in the ClinSeq™ study. An exploratory factor analysis items yielded two factors (sequencing limitations...
Summary Variants of uncertain significance (VUS) pose a significant challenge for those undergoing genetic testing, leading to prolonged uncertainty and inappropriate medical care. VUS rate reduction is critical fully realize the utility testing all populations. With growth large-scale biological data sources modern Machine Learning (ML) techniques, predictive modeling has enormous potential reduction. For this purpose, we developed Invitae Evidence Modeling™ Platform (EMP), with key...
Abstract Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of absent or limited movement that maps to chromosome 3q21-q22 and hypothesized result from branchial motor neuron (FBMN) maldevelopment. In the present study, we report HCFP1 results heterozygous duplications within a neuron-specific GATA2 regulatory region includes two enhancers one silencer, noncoding single-nucleotide variants (SNVs) silencer. Some SNVs impair binding NR2F1 silencer in vitro...
Importance Because accurate and consistent classification of DNA sequence variants is fundamental to germline genetic testing, understanding patterns initial variant (VC) subsequent reclassification from large-scale, empirical data can help improve VC methods, promote equity among race, ethnicity, ancestry (REA) groups, provide insights inform clinical practice. Objectives To measure the degree which VCs met certainty thresholds set by professional guidelines quantify rates of, factors...
Whole-genome analysis and whole-exome generate many more clinically actionable findings than traditional targeted genetic analysis. These may be relevant to research participants themselves as well for members of their families. Though researchers performing genomic analyses are likely find medically significant variations nearly every participant, what they will any given participant is unpredictable. The ubiquity diversity these complicate questions about disclosing individual test...
Respecting the confidentiality of personal data contributed to genomic studies is an important issue for researchers using sequencing in humans. Although most adhere rules confidentiality, there are different conceptions and why it important. The resulting ambiguity obscures what at stake when making tradeoffs between protection other goals research, such as transparency, reciprocity, public benefit. Few have examined participants research care about how their information used. To explore...
Abstract Rare missense variants are often classified as of uncertain significance (VUS) due to insufficient evidence for classification. These ambiguous findings create anxiety and frequently lead inappropriate workup, colloquially referred the ‘diagnostic odyssey’. Well-validated high-throughput experimental data have potential significantly reduce number VUS identified by clinical genetic testing, though extent this reduction optimal strategies achieve it remain unclear. 1
Variants of Uncertain Significance (VUS) in genetic testing for hereditary diseases burden patients and clinicians, yet clinical data that could reduce VUS are underutilized due to a lack scalable strategies. We assessed whether machine learning approach using genotype phenotype improve variant classification VUS. In this cohort study multi-step approach, patient from test requisition forms were used distinguish with molecular diagnoses controls ("patient score"). A generative Bayesian model...
A molecular diagnosis can be associated with medical actionability, informing clinical management of genetic disease, for example, by pointing to guidelines surveillance or precision therapies. However, the rate test results that is medically actionable remains unknown in real-world testing. Understanding degree which gene testing inform care important because it has broad relevance care, professional practice guidelines, patient advocacy, health economic research, and insurance...
Advances in next-generation sequencing (NGS) and rapid reductions cost have increased the use of such technologies research clinical practice. However, many barriers exist to translating NGS for routine use, including issues related interpretation results, potential find results that are secondary or incidental specific application NGS. Nonetheless, has become sufficiently affordable be offered by several laboratories, increasingly it is becoming an attractive viable option clinicians...