ClinicalTrials.govThe U.S. National Institutes of Health, through the National Library of Medicine, has developed ClinicalTrials.gov to provide patients, family members and members of the public current information about clinical research studies. You can search for clinical trials that are recruiting, or browse a fuller list by condition or funding organization.
National Human Genome Research Institute (NHGRI) Clinical StudiesResearchers at the National Human Genome Research Institute (NHGRI) are working with patients and families to better understand of how genes can cause or influence diseases and develop new and more effective diagnostics and treatments.
The Undiagnosed Disease NetworkThe Undiagnosed Diseases Network (UDN) is a research study funded by the National Institutes of Health. Its purpose is to bring together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies.
Through this study, we hope to both help individual patients and families living with the burden of undiagnosed diseases, and contribute to the understanding of how the human body works.
Ask2Me - All Syndromes Known to Man EvaluatorThe purpose of this website is to display a reasonable approximation of the risk of cancers over time for various hereditary cancer susceptibility genes using ASK2ME™ (All Syndromes Known to Man Evaluator™). Many cancer susceptibility genes are now being tested for, and the risk of cancer with pathogenic mutations in some of these genes is not yet well disseminated. We have begun the process of finding reliable studies for each gene relative to its risk for each cancer in its spectrum. We have converted the results of these studies into clinically relevant absolute risk estimates. We will add genes, and update approximations as time and data permit.
Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA)/CanRiskCanRisk is an online tool that enables healthcare professionals to calculate an individual's future risks of developing breast and ovarian cancer using cancer family history, genetic and other risk factors. CanRisk also calculates mutation carrier probabilities in breast and ovarian cancer susceptibility genes.
Breast Cancer Surveillance Consortium (BCSC) Risk CalculatorThe Breast Cancer Surveillance Consortium (BCSC) previously developed an invasive breast cancer risk calculator that estimates five- and ten-year risk based on the following factors: age, race and ethnicity, first-degree family history of breast cancer, history of breast biopsy, and breast density. In 2023, the BCSC invasive breast cancer risk calculator was updated to include second-degree family history of breast cancer, body mass index (BMI), and age at first live birth. The BCSC calculators and risk models were developed in individuals assigned female sex at birth, hereafter ‘individuals.’ The goal of the BCSC Invasive Cancer Risk Calculator app is to aid health professionals in computing invasive breast cancer risk, which may be used to guide decisions about primary prevention.
BWHS (Black Women’s Health Study) Breast Cancer Risk CalculatorThis BWHS (Black Women’s Health Study) Breast Cancer Risk Calculator allows health professionals to estimate a woman’s risk of developing invasive breast cancer over the next 5 years. It was derived and tested solely in data from U.S. Black women. The tool uses a woman’s personal medical and reproductive history and the history of breast cancer and prostate cancer among her first-degree relatives (parents, siblings, children) to estimate absolute breast cancer risk—her chance or probability of developing breast cancer in a given period of time.
Cleveland Clinic PTEN Risk CalculatorWelcome to the Cleveland Clinic risk assessment tool for estimation of a person's risk of having a PTEN mutation. Clinical syndromes often associated with this gene mutation include Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS). This tool was designed for use by healthcare professionals. If you are not a healthcare professional, you are encouraged to discuss the results with your doctor or a genetics healthcare provider.
Colorectal Cancer Risk Assessment Tool (NCI)The Colorectal Cancer Risk Assessment Tool is a calculator designed for doctors and other health care providers to use with their patients. There is not as much data available for Black/African American, Asian American/Pacific Islander, or Hispanic/Latino individuals. Until researchers complete additional studies to provide more information about these groups, their results may be less accurate. While the calculator is not perfect, it can still help doctors and their patients better understand personal risk of colorectal cancer.
Gail - Breast Cancer Risk Assessment ToolThe Breast Cancer Risk Assessment Tool (BCRAT), also known as The Gail Model, allows health professionals to estimate a woman's risk of developing invasive breast cancer over the next five years and up to age 90 (lifetime risk).
The tool uses a woman's personal medical and reproductive history and the history of breast cancer among her first-degree relatives (mother, sisters, daughters) to estimate absolute breast cancer risk-her chance or probability of developing invasive breast cancer in a defined age interval.
Melanoma Risk CalculatorThe Melanoma Risk Assessment Tool (MRAT) is a calculator developed for use by health professionals to estimate a patient's absolute risk of developing melanoma. Absolute risk is the likelihood that a person will develop a specific type of cancer over a certain period of time, in this case five years.
Although an individual's risk may be accurately estimated, these predictions cannot precisely determine who will develop melanoma. If you are not a health professional, you are strongly encouraged to discuss your results and personal risk of melanoma with your provider.
PathologyOutlines.comThe purpose of this website is to provide useful professional information to practicing Pathologists and laboratory personnel in 15 seconds or less.
PREMM5 Lynch Syndrome Prediction ModelThe PREMM5 model is a clinical prediction algorithm that estimates the cumulative probability of an individual carrying a germline mutation in the MLH1, MSH2, MSH6, PMS2, or EPCAM genes. Mutations in these genes cause Lynch syndrome, an inherited cancer predisposition syndrome.
Tyrer Cuzick Risk Assessment CalculatorThis risk calculator asks questions about your personal and family history to determine the possibility of developing breast cancer. The results will display your 10-year risk and your lifetime risk score. The purpose of this tool is simply to inform you. Please consult with your physician should you have any questions about your risk for breast cancer or for guidance on options for breast cancer screening or genetic counseling.
LexigeneEnglish-French-Spanish Genetic Counselling Lexicon. This project was funded by the 2009-2011 Small Project Grant of the Canadian Association of Genetic Counsellors (CAGC). The creators of Lexigene® are the recipients of the 2009-2011 CAGC Small Project Grant: Mireille Cloutier, Julie Hathaway, Guillaume Sillon and Rachel Vanneste. The maintenance of the Lexigene® website is funded and coordinated by the CAGC. Lexigene® has been registered at the Canadian Intellectual Property Office on June 19, 2014 (registration number TMA880,413), and at the United States Patent and Trademark Office on April 21, 2015 (registration number 4722129).
PubMedThis link opens in a new windowThe U.S. National Library of Medicine's database of peer-reviewed literature covers research in medicine, nursing, dentistry, veterinary medicine, allied health, and the preclinical sciences. Contains more than 26 million references dating back to the 1940s. Easy access to the Library's ejournals is available through a customized PubMed version, which may be accessed from the Library's home page. Off-campus access to this customized version is available through EZProxy.
TrakGeneIntuitive pedigree chart drawing tool out of the box, developed with clinicians for clinicians, allowing fast collection of genetic and family history information.
CyDASThe software creates an image showing the chromosomes (both normal and rearranged) for an ISCN karyotype.
Face2GeneFace2Gene, developed by FDNA, is a suite of phenotyping applications that facilitates comprehensive and precise genetic evaluations.
GEMMS (Genetic Education Materials for School Success)Genetic Education Materials for School Success (GEMSS) provides a family-friendly starting point to help family members learn more about genetic conditions and offers ideas to encourage inclusion and participation in the classroom. GEMSS shares condition-specific information and resources for multiple audiences, including families, professionals, healthcare providers, and schools. Contributors to GEMSS come from clinical, public health, advocacy, and academic settings. All content has been vetted by clinical and family experts.
GeneReviewsGeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families. Each chapter in GeneReviews is written by one or more experts on the specific condition or disease and goes through a rigorous editing and peer review process before being published online.
MedlinePlus: GeneticsFind consumer-friendly information about the effects of genetic variation on human health.
Online Mendelian Inheritance in Man - OMIMThis link opens in a new windowDatabase of human genes and genetic disorders containing textual information, pictures, reference information and links to the Entrez database of MEDLINE articles and sequence information. The site is authored and edited at Johns Hopkins University Medical School and developed for the Internet by the National Center for Biotechnology Information and the National Library of Medicine.
POSSUMPOSSUM is a tool to assist in diagnosis, but using trait searching does not guarantee the retrieval of a specific diagnosis or information, but rather offers a selection of possible diagnoses for consideration by the clinician. It is advised to check with original referenced source material to further assist in making a diagnosis.
UniqueFind free information guides to specific chromosome and gene disorders, as well as guides translated into various languages.
UpToDate® OnlineThis link opens in a new windowA comprehensive, evidence-based clinical information resource, designed to give practical answers to clinicians at the point of care. Access is available for faculty, staff, students, residents, and fellows of UT Southwestern Medical Center, thanks to funding from the Office of the Dean, UT Southwestern Medical School.
MICROMEDEXThis link opens in a new windowProvides a wide range of evidence based information as well as access to English and Spanish patient education handouts. Features comprehensive drug details (DRUGDEX®), drug interactions (DRUG-REAX®), imprint code identification (IDENTIDEX®), toxicology and hazard data (TOMES®), identification and management of drug overdoses and toxicologic exposures (POSINDEX®), evaluation of human reproductive risks of drugs (REPRORISK®), and answers to IV drug compatibility questions (IV INDEX®).
MotherToBabyMotherToBaby, a service of the non-profit Organization of Teratology Information Specialists (OTIS), is the nation’s leading authority and most trusted source of evidence-based information on the benefit or risk of medications and other exposures during pregnancy and while breastfeeding. We specialize in answering questions about the benefit/risk of exposures, such as medications, vaccines, chemicals, herbal products, substances of abuse, maternal health conditions and much more, during pregnancy or breastfeeding. Our no-cost information service is available to people who are pregnant and/or breastfeeding, their family members, health professionals, and the general public via chat, text, phone, and email in both English and Spanish.
ReproToxREPROTOX® contains summaries on the effects of medications, chemicals, infections, and physical agents on pregnancy, reproduction, and development. The REPROTOX® system was developed as an adjunct information source for clinicians, scientists, and government agencies. Patients should consult their health care providers rather than relying on REPROTOX® summaries.
Texas Newborn Screening ProgramThe Texas Department of State Health Services Newborn Screening Program consists of testing, follow-up and clinical care coordination. All babies born in Texas are required to get a newborn screening blood test soon after birth for certain disorders. Babies also receive hearing and critical congenital heart disease screenings before they leave the birthing facility. An abnormal laboratory result triggers follow-up and case management to ensure that the baby receives confirmatory testing and treatment, if needed. Early treatment can prevent serious complications such as growth problems, developmental delays, deafness or blindness, intellectual disability, seizures or even early death.
Texas newborns are screened for rare, but serious genetic disorders or medical conditions. Blood samples that are sent to the Austin state laboratory are screened for 55 conditions. Babies also receive newborn hearing screening and are screened for critical congenital heart disease before they leave the birthing facility.
ClinGenClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building a central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.
Clinical and Functional Translation of CFTRCFTR2 is a website that provides information for patients, researchers, and the general public about specific variants in what is commonly referred to as the cystic fibrosis (CF) gene.
ClinVarClinVar is a freely accessible, public archive of reports of human variations classified for diseases and drug responses, with supporting evidence. ClinVar thus facilitates access to and communication about the relationships asserted between human variation and observed conditions, and the history of those assertions. ClinVar processes submissions reporting variants found in patient samples, classifications for diseases and drug responses, information about the submitter, and other supporting data. The variants described in submissions are mapped to reference sequences, and reported according to the HGVS standard. ClinVar presents the data on the website for interactive users, and on the FTP site and by API for those wishing to use ClinVar programmatically in daily workflows and other local applications. ClinVar works in collaboration with interested organizations to meet the needs of the medical genetics community as efficiently and effectively as possible.
FranklinFranklin empowers genomic professionals to answer almost any genomic question - guiding more informed clinical decision making, determining more accurate care pathways and enabling more personalized and targeted therapies.
gnomADThe Genome Aggregation Database (gnomAD), originally launched in 2014 as the Exome Aggregation Consortium (ExAC), is the result of a coalition of investigators willing to share aggregate exome and genome sequencing data from a variety of large-scale sequencing projects, and make summary data available for the wider scientific community. The project is overseen by co-directors Heidi Rehm and Mark Daly, and steering committee members Samantha Baxter, Katherine Chao, Julia Goodrich, Konrad Karczewski, Daniel MacArthur, Benjamin Neale, Anne O'Donnell-Luria, Kaitlin Samocha, Matthew Solomonson, and Michael Talkowski.
Mutation TasterMutationTaster is a free web-based application to evaluate DNA sequence variants for their disease-causing potential. The software performs a battery of in silico tests to estimate the impact of the variant on the gene product / protein. Tests are made on both, protein and DNA level, MutationTaster is hence not limited to substitutions of single amino acids but can also handle synonymous or intronic variants.
UCSC Genome BrowserContains links to the USCS assembly of the current draft of the human genome. This assembly attempts to merge together overlapping fragments, and to order and orient non-overlapping fragments based on mRNA, EST, paired plasmid reads, and other information.
