Genomics and Precision Health Database

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Query Trace: all[original query]>>Tools/Methods[Product Type]

Publication
CanRisk Tool - A web interface for the prediction of breast and ovarian cancer risk and the likelihood of carrying genetic pathogenic variants. Carver Tim et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2020 Dec Similar articles in PubMed
Malaria Screener: a smartphone application for automated malaria screening. Yu Hang et al. BMC infectious diseases 2020 Nov 20(1) 825 Similar articles in PubMed
Training courses on hereditary breast and ovarian cancer to strengthen cross-sectoral care in underserved areas. Kühn Friedrich et al. Patient education and counseling 2020 Nov Similar articles in PubMed
DINAX- a comprehensive database of inherited ataxias. Chaudhari Sima et al. Computers in biology and medicine 2020 Sep 126104000 Similar articles in PubMed
Flexible Real-Time Polymerase Chain Reaction-Based Platforms for Detecting Deafness Mutations in Koreans: A Proposed Guideline for the Etiologic Diagnosis of Auditory Neuropathy Spectrum Disorder. Lee Sang-Yeon et al. Diagnostics (Basel, Switzerland) 2020 Sep 10(9) Similar articles in PubMed
Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis-Practice Resource of the National Society of Genetic Counselors. Radtke Heather B et al. Journal of genetic counseling 2020 Jun Similar articles in PubMed
Duchenne Muscular Dystrophy Education Series American Academy of Pediatrics
New CRISPR tool has the potential to correct almost all disease-causing DNA glitches, scientists report S Begley. Stat News, October 21, 2019
The Colorectal Cancer Risk Assessment Tool NCI, 2019
The Community Counts Data Visualization Tool CDC, 2019
Development of the Hereditary Angioedema Rapid Triage (HAE-RT) Tool. Betschel Stephen et al. The journal of allergy and clinical immunology. In practice 2019 Jun Similar articles in PubMed
Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases. Vieira Taiane Alves et al. Genetics and molecular biology 2019 Jun Similar articles in PubMed
A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial. Crow Rebecca A et al. Trials 2018 May 19(1) 291 Similar articles in PubMed
2019 Digital Toolkit: NATIONAL BIRTH DEFECTS PREVENTION MONTH
DMD Open-access Variant Explorer (DOVE): A scalable, open-access, web-based tool to aid in clinical interpretation of genetic variants in the DMD gene. Bailey Mitchell et al. Molecular genetics & genomic medicine 2018 Nov Similar articles in PubMed
A new integrated and interactive tool applicable to inborn errors of metabolism: Application to alkaptonuria. Spiga Ottavia et al. Computers in biology and medicine 2018 Oct 1031-7 Similar articles in PubMed
SMART Cancer Navigator: A Framework for Implementing ASCO Workshop Recommendations to Enable Precision Cancer Medicine. Warner Jeremy L et al. JCO precision oncology 2018 2018 Similar articles in PubMed
Management of Individuals at Increased Hereditary Risk ASCO, 2018
Formulation of Genetic Counseling Format for Adult Bangladeshi Patients with Acute Myeloid Leukemia. Rahman M Z et al. Genetics research international 2018 20181534090 Similar articles in PubMed
Validation of Version 3.0 of the Breast Cancer Genetics Referral Screening Tool (B-RST™). Bellcross Cecelia et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 May Similar articles in PubMed
Newborn screening for severe combined immunodeficiency: a primer for clinicians. Biggs Catherine M et al. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2017 Dec 189(50) E1551-E1557 Similar articles in PubMed
Development of a culturally tailored genetic counseling booklet about hereditary breast and ovarian cancer for Black women. Permuth-Wey Jennifer et al. American journal of medical genetics. Part A 2010 Apr 152A(4) 836-45 Similar articles in PubMed
Development of a brochure for increasing awareness of inherited breast cancer in black women. Vadaparampil Susan T et al. Genetic testing and molecular biomarkers 15(1-2) 59-67 Similar articles in PubMed
Hemophilia Treatment Center (HTC) Directory
Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) The Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) is a computer program that is used to calculate the risks of breast and ovarian cancer in women based on their family history.
ApreciseKUre: an approach of Precision Medicine in a Rare Disease. Spiga Ottavia et al. BMC medical informatics and decision making 2017 Apr 17(1) 42 Similar articles in PubMed
DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD. Zhou Jiapeng et al. BMC bioinformatics 2017 Feb 18(1) 87 Similar articles in PubMed
Proposal for a Prospective Registry for Moyamoya Disease in Japan. Kazumata Ken et al. Neurologia medico-chirurgica 2017 Jan Similar articles in PubMed
Implementing evidence-driven individualized treatment plans within Morquio A Syndrome. Clarke Lorne A et al. Molecular genetics and metabolism 2016 Feb 117(2) 217 Similar articles in PubMed
BRCA Share: A Collection of Clinical BRCA Gene Variants. Beroud Christophe et al. Human mutation 2016 Sep Similar articles in PubMed