Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content
Rare Disease PHGKB

Specific PHGKB|Rare Diseases PHGKB|PHGKB

Last Posted: Sep 22, 2022
spot light Spotlight

Correspondence on “Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions”
SD Grosse et al, Genetics in Medicine, September 21, 2022

The relative cost-effectiveness of rES and rGS should be informed by up-to-date evidence on costs and diagnostic performance and reflect specific clinical settings, meeting the needs of decision-makers in those settings. Published economic evaluations of GS should distinguish between the price and cost (value of resources used) of sequencing and suggested that the use of microcosting data could improve the accuracy of cost-effectiveness analyses from either the societal or health care perspectives.

Neurofibromatosis Type 1 and Risk of Skin Cancer
J Trinh et al, JAMA Dermatology, August 24, 2022

This study found increased odds of melanoma, BCC, and SCC in patients with NF1. Whole-exome sequencing has established NF1 as the third most frequently mutated gene in melanomas.3 About 12% to 18% of melanomas and 45% to 93% of desmoplastic melanomas harbor NF1 alterations.

Prevalence of Fabry disease-causing variants in the UK Biobank.
Gilchrist Mark et al. Journal of medical genetics 2022 8

Fabry disease is an X-linked lysosomal storage disorder resulting from deficiency of the alpha-galactosidase A enzyme leading to accumulation of globotriaosylceramide in multiple organ sites with prominent cardiovascular and renal involvement. Global prevalence estimates of Fabry disease based on clinical ascertainment range from 1 in 40?000 to 1 in 170?000. We aimed to determine the prevalence of Fabry disease-causing variants in UK Biobank.

Discovering monogenic patients with a confirmed molecular diagnosis in millions of clinical notes with MonoMiner.
Wu David Wei et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 8

We define a subset (4461) of OMIM diseases that have at least 1 known monogenic causal gene. We then introduce MonoMiner, a natural language processing framework to identify molecularly confirmed monogenic patients from free-text clinical notes. We show that ICD-10-CM codes cover only a fraction of monogenic diseases and that even where available, ICD-10-CM code?based patient retrieval offers 0.14 precision. Searching by causal gene symbol offers great recall but has an even worse 0.07 precision. MonoMiner achieves 6 to 11 times higher precision (0.80), with 0.87 precision on disease diagnosis alone, tagging 4259 patients with 560 monogenic diseases and 534 causal genes, at 0.48 recall.

news Latest News and Publications
COVID-19 Infection in Patients with Humoral Immunodeficiency: A Case Series and Literature Review. External Web Site Icon
Jalil Maaz, et al. Allergy & rhinology (Providence, R.I.) 2022 0 0. 21526575221096044
Lipopolysaccharide Responsive Beige-like Anchor Protein Deficiency in a Patient with Autoimmune Lymphoproliferative Syndrome-like Disease Phenotype: A Case Report and Literature Review. External Web Site Icon
Fetyan Saja, et al. Iranian journal of allergy, asthma, and immunology 2022 0 0. (2) 219-227
Circulating microRNA profiling is altered in the acute respiratory distress syndrome related to SARS-CoV-2 infection. External Web Site Icon
Garcia-Giralt Natalia, et al. Scientific reports 2022 0 0. (1) 6929
Identifying Potential Gene Defect Patterns Related to COVID-19 Based on Pharmacological and Bioinformatics Analysis for Lung Adenocarcinoma. External Web Site Icon
Lou Hongqiang, et al. International journal of general medicine 2022 0 0. 4285-4301
Artificial Intelligence Assisting the Early Detection of Active Pulmonary Tuberculosis From Chest X-Rays: A Population-Based Study. External Web Site Icon
Nijiati Mayidili et al. Frontiers in molecular biosciences 2022 9874475
TB-Net: A Tailored, Self-Attention Deep Convolutional Neural Network Design for Detection of Tuberculosis Cases From Chest X-Ray Images. External Web Site Icon
Wong Alexander et al. Frontiers in artificial intelligence 2022 5827299
Passive Immunotherapy Against SARS-CoV-2: From Plasma-Based Therapy to Single Potent Antibodies in the Race to Stay Ahead of the Variants. External Web Site Icon
Strohl William R, et al. BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy 2022 0 0.
'We're kind of like genetic nomads': Parents' experiences of biographical disruption and uncertainty following in/conclusive results from newborn cystic fibrosis screening. External Web Site Icon
Boardman Felicity et al. Social science & medicine (1982) 2022 301114972
A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure. External Web Site Icon
Volozonoka Ludmila et al. Reproduction (Cambridge, England) 2022 163(6) 351-363
Association of Elevated Expression Levels of COL4A1 in Stromal Cells with an Immunosuppressive Tumor Microenvironment in Low-Grade Glioma, Pancreatic Adenocarcinoma, Skin Cutaneous Melanoma, and Stomach Adenocarcinoma. External Web Site Icon
Shin Hyo-Jae et al. Journal of personalized medicine 2022 12(4)
Common data elements to standardize genomics studies in cerebral palsy. External Web Site Icon
Wilson Yana A et al. Developmental medicine and child neurology 2022
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants. External Web Site Icon
Poncet Anaïs F et al. International journal of molecular sciences 2022 23(8)
Disease Progression Stages and Burden in Patients with Duchenne Muscular Dystrophy Using Administrative Claims Supplemented by Electronic Medical Records. External Web Site Icon
Iff Joel et al. Advances in therapy 2022
DNA Sequencing Analysis of Cystic Fibrosis Transmembrane Regulator Gene Identifies Cystic Fibrosis-Associated Variants in the Severe Asthma Research Program. External Web Site Icon
Izquierdo Manuel E et al. Pediatric pulmonology 2022
Effect of Occurrence of Lamin A/C (LMNA) Genetic Variants in a Cohort of 101 Consecutive Apparent "Lone AF" Patients: Results and Insights. External Web Site Icon
Pessente Gabrielle D'Arezzo et al. Frontiers in cardiovascular medicine 2022 9823717
Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects. External Web Site Icon
Cao Y et al. Prenatal diagnosis 2022
Familial Mediterranean Fever: How to Interpret Genetic Results? How to Treat? A Quarter of a Century After the Association with the Mefv Gene. External Web Site Icon
Batu Ezgi Deniz et al. Current rheumatology reports 2022
Genetic Testing for All: Overcoming Disparities in Ovarian Cancer Genetic Testing. External Web Site Icon
Frey Melissa K et al. American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting 2022 421-12
Next Generation Sequencing and Molecular Biomarkers in Ovarian Cancer-An Opportunity for Targeted Therapy. External Web Site Icon
Harbin Laura M et al. Diagnostics (Basel, Switzerland) 2022 12(4)
Occurrence of Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Patients with Allergic Bronchopulmonary Aspergillosis Complicating Asthma. External Web Site Icon
Kanaujia Rimjhim et al. Mycopathologia 2022


Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.