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ClinGen Genome Dosage Map

Dosage.clinicalgenome.org   DA: 25 PA: 25 MOZ Rank: 50

  • The Clinical Genome Resource (ClinGen) consortium is curating genes and regions of the genome to assess whether there is evidence to support that these genes/regions are dosage sensitive and should be targeted on a cytogenomic array.

CNV Pathogenicity Calculator

Cnvcalc.clinicalgenome.org   DA: 26 PA: 9 MOZ Rank: 36

  • ClinGen CNV Interpretation Calculator
  • Welcome to the ClinGen CNV Interpretation Calculator
  • The calculator is based on the CNV scoring metrics that appear in the ACMG Technical Standards.This tool is designed to help you keep track of the points you have assigned based on the evidence you have observed, then tallies the points to help you arrive at preliminary CNV classification.

Pathogenicity Calculator

Reg.clinicalgenome.org   DA: 22 PA: 19 MOZ Rank: 43

  • Moreover, the Calculator makes reasoning explicit by documenting applicable rules, evidence codes, and links to supporting data
  • By explicitly communicating the reasoning behind a conclusion about pathogenicity of any specific variant, the Calculator enables critical evaluation of the reasoning and facilitates resolution of conflicting conclusions.

ClinGen Genome Dosage Map

Dosage.clinicalgenome.org   DA: 25 PA: 19 MOZ Rank: 47

  • Clinical findings in common across patients included developmental delays, intellectual disability, and dysmorphic features
  • Some patients also had a history of seizures, hypotonia, or abnormal EEG
  • Inheritance was known for 4 individuals: two probands had de novo deletions and two inherited the deletion from an affected parent.

CNV Pathogenicity Calculator

Cnvcalc.clinicalgenome.org   DA: 26 PA: 17 MOZ Rank: 47

  • CNV Interpretation Scoring Rubric: Copy Number GAIN
  • Full descriptions of each evidence category, including caveats to consider while scoring and illustrative examples, are provided in Supplemental Material 1 [Word Document], published in the ACMG Technical Standards.Also visit the CNV Web Series page to access slides, webinars, examples, and FAQs.

Dosage Sensitivity

Clinicalgenome.org   DA: 22 PA: 40 MOZ Rank: 67

  • The ClinGen Dosage Sensitivity curation process collects evidence supporting/refuting the haploinsufficiency and triplosensitivity of genes and genomic regions

The Clinical Genome (ClinGen) Resource

Genome.gov   DA: 14 PA: 50 MOZ Rank: 70

  • The Clinical Genome (ClinGen) Resource
  • ClinGen collects phenotypic and clinical information on variants across the genome, develops consensus approaches to identifying their clinical relevance, and disseminates this information to researchers and clinicians
  • The resource will advance genomics in clinical care and improve our understanding of

Explore The Clinical Relevance Of Genes & Variants

Clinicalgenome.org   DA: 22 PA: 22 MOZ Rank: 51

  • ClinGen is defining the clinical relevance of genes and variants
  • ClinGen was founded in 2013 by the National Human Genome Research Institute, ClinGen is a growing collaborative effort, involving three grants, nine principal investigators and over 1,700 contributors from more than 40 countries.

Dosage Calculator

Calculators.io   DA: 14 PA: 8 MOZ Rank: 30

  • The most important use of this dosage calculator is to find out the dose of medication that’s appropriate for your weight
  • Rather than manually having to convert mg to ml dosage, you can use this calculator to do the work for you
  • Taking the proper dose of medication is essential to ensure your safety and the prevention of unwanted side effects.

ClinGen Genome Dosage Map

Dosage.clinicalgenome.org   DA: 25 PA: 19 MOZ Rank: 53

Triplosensitivity score: 0; Strength of Evidence : No evidence for dosage pathogenicity; Triplosensitivity phenotype comment: Due to lack of reported clinical association of 16p12.2 duplications, as well as lack of supportive case-control data, there is currently insufficient evidence to support triplosensitivity of this region; therefore the triplosensitivity score is 0.

ClinGen Genome Dosage Map

Dosage.clinicalgenome.org   DA: 25 PA: 19 MOZ Rank: 54

  • The clinical features described in this patient included biopolar disorder, ADHD, and aggression
  • This patient had a sister who was a carrier of this duplication with clinical features including speech delay, ADHD and aggression; however, an additional CNV was identified (11p14.3p14.2 deletion, breakpoints not indicated).

CNV Pathogenicity Calculator

Cnvcalc.clinicalgenome.org   DA: 26 PA: 17 MOZ Rank: 54

  • CNV Interpretation Scoring Rubric: Copy Number LOSS
  • Full descriptions of each evidence category, including caveats to consider while scoring and illustrative examples, are provided in Supplemental Material 1 [Word Document], published in the ACMG Technical Standards.Also visit the CNV Web Series page to access slides, webinars, examples, and FAQs.

Sequencing Support – Coverage Calculator

Support.illumina.com   DA: 20 PA: 46 MOZ Rank: 78

  • Calculator to help determine the reagents and sequencing runs needed to arrive at desired Our leaders are pioneers of genetic research and clinical applications
  • They are deeply committed to scientific accessibility, data, and community
  • Illumina supports the release of a landmark consensus on whole-genome sequencing in the diagnosis of

Genome-to-Genome Distance Calculator (GGDC)

Dsmz.de   DA: 11 PA: 50 MOZ Rank: 74

  • Genome-to-Genome Distance Calculator (GGDC) The pragmatic species concept for Bacteria and Archaea is ultimately based on DNA-DNA hybridization (DDH), a method known to be tedious
  • The GGDC is a state-of-the-art in silico method for genome-to-genome comparison, thus reliably mimicking conventional DDH, except for its pitfalls.

Factor VIII Dosage Calculator

Clinicaladvisor.com   DA: 23 PA: 50 MOZ Rank: 87

  • A calculator for determining Factor VIII dosage
  • ClinicalAdvisor.com is for nurse practitioners and physician assistants, offering the latest information on …

ClinGen Genome Dosage Map

Dosage.clinicalgenome.org   DA: 25 PA: 19 MOZ Rank: 59

  • Penetrance for any clinical phenotype associated with this deletion was estimated to be 8% using a previously reported clinical cohort compared to the UK Biobank control database
  • 31665216: The ENIGMA-CNV Working Group (2019) examined cognitive function and brain structure of individuals who carried the recurrent 15q11.2 (BP1-BP2) deletion.

Dose Calculation Desired Over Have Formula Method

Ncbi.nlm.nih.gov   DA: 20 PA: 17 MOZ Rank: 53

  • Drug calculation and basic mathematical skills play a role in the safe administration of medications
  • According to a 2016 study of intensive care (ICU) nurses, 80% of nurses considered knowledge of drug dosage calculation essential to decrease medication errors during the preparation of intravenous drugs.

CNV Technical Standards Web Series

Clinicalgenome.org   DA: 18 PA: 19 MOZ Rank: 54

A multi-part web series to educate the community about the newly released ACMG/ClinGen technical standards for interpretation and reporting of constitutional copy number variants (CNVs).

Study Guide With Sample Questions Dosage Calculation

Nr.edu   DA: 10 PA: 27 MOZ Rank: 55

  • Dosage Calculation Competency • Applicants to the LPN-to-Associate Degree "Bridge"Nursing Program must document competency indosage calculation that is equivalent to the content covered in NUR 135
  • • The minimum accuracy rate is 78%, and is the same as the minimum pass rate for traditional four­

Dosage Sensitivity Training Materials

Clinicalgenome.org   DA: 22 PA: 50 MOZ Rank: 91

  • Live Dosage Sensitivity CurationTraining
  • Attend a live dosage sensitivity curation training to learn more about our scoring guidelines and tracking system
  • The ClinGen Community Curation Group will contact you regarding this training, once you have either emailed [email protected] or filled out the volunteer surveybelow (Please use

PO Dose Calculator: Liquid Forms

Manuelsweb.com   DA: 18 PA: 9 MOZ Rank: 47

  • Give 100 milligrams (mg) of theophylline elixir
  • The elixir comes as 27 mg per 5 milliliters (mL)
  • Using the formula, a dose of 18.5 mL is prepared
  • In this example: Dose ordered = 100 mg; Volume of dose available = 5 mL; Dose available = 27 mg

Drug Dosage Calculations How-to-guide + Quiz KnowledgeDose

Knowledgedose.com   DA: 21 PA: 26 MOZ Rank: 68

  • Drug Dosage Calculation Formulas
  • To calculate the number of tablets, use the following formula: Strength required / Stock strength = Number of tablet (s) required
  • Or another way this drug dosage formula can be expressed is: What you want / What you’ve got = Number of tablet (s) required
  • To calculate the volume dose for liquid medicine, use

A Genome-based Model For Adjusting Radiotherapy Dose (GARD

Ncbi.nlm.nih.gov   DA: 20 PA: 25 MOZ Rank: 67

  • The calculation for GARD is similar to biologically effective dose, except that patient-specific α is derived by substituting radiosensitivity index for survival (S) in equation 1, where dose (d) is 2 Gy, n=1, and β is a constant (0·05/Gy 2)
  • 25 A higher GARD value predicts a higher radiation therapeutic effect

Dosage Sensitivity Curations

Search.clinicalgenome.org   DA: 25 PA: 15 MOZ Rank: 63

  • Page Preferences allow you to save and restore individual settings to your preference
  • Currently this new feature allows you to manage table page number, table page size, table search string, and table column sort order
  • Future releases will also manage advanced filters, column layout, and column search settings

Weight-based Medication Dosing

Reference.medscape.com   DA: 22 PA: 46 MOZ Rank: 92

  • No additional details found for the Weight-based medication dosing calculator
  • This information is not intended to replace clinical judgment or guide individual patient care in any manner.

A Simple Practice Guide For Dose Conversion Between

Ncbi.nlm.nih.gov   DA: 20 PA: 25 MOZ Rank: 70

  • Safe and effective drug dosing is necessary, regardless of its purpose of administration
  • There are several instances, wherein the initial dose of a particular drug is unavailable in a specific species
  • Therefore, choosing starting dose of such drugs for research, experiments, or clinical trials in animals and humans is a concern.

Dosage Calculations The Easy Way!

Straightanursingstudent.com   DA: 27 PA: 34 MOZ Rank: 87

  • Voila! Now, do your calculation! OK…you have the hang of that now? That’s a simple calculation with one conversion
  • What if you have multiple conversions, medications dosed by weight or even medications dosed by weight AND time? Dosage Calculations Bootcamp teaches you how to perform all types of medication math with 100% accuracy

Data Platform

Www-old.clinicalgenome.org   DA: 26 PA: 30 MOZ Rank: 83

  • The DP is comprised of the development team members across all of the software products being developed to deliver ClinGen's aims
  • The software products and teams are owned by either Stanford, Baylor, Geisinger/Broad, or UNC
  • The DP also addresses external product integrations that are core to data platform workstreams, namely ClinVar.

Pharmacology Drug Dosage Calculations.ppt [Read-Only]

Hy.health.gov.il   DA: 16 PA: 50 MOZ Rank: 94

  • Drug Dosage Calculations Shelby County EMS Training Division
  • Overview • Abbreviations • Metric Conversions • Desired Dose • Concentrations • Drip Rates • Medications (Dopamine and Lidocaine) Abbreviations • cc- cubic centimeter • DD- Desired Dose • gm- gram • gtt- drop/drops

A Genome-based Model For Adjusting Radiotherapy Dose (GARD

Thelancet.com   DA: 17 PA: 50 MOZ Rank: 96

The calculation for GARD is similar to biologically effective dose, except that patient-specific α is derived by substituting radiosensitivity index for survival (S) in equation 1, where dose (d) is 2 Gy, n=1, and β is a constant (0·05/Gy 2).

Variant Interpretation For Cancer (VIC

Genomemedicine.biomedcentral.com   DA: 32 PA: 35 MOZ Rank: 97

  • Clinical laboratories implement a variety of measures to classify somatic sequence variants and identify clinically significant variants to facilitate the implementation of precision medicine
  • To standardize the interpretation process, the Association for Molecular Pathology (AMP), American Society of Clinical Oncology (ASCO), and College of American Pathologists (CAP) published guidelines for

Clinical Research FAQ

Genome.gov   DA: 14 PA: 22 MOZ Rank: 67

Clinical trials of experimental drugs proceed through four phases: In Phase I clinical trials, researchers test a new drug or treatment for the first time in a small group of normal, healthy volunteers (about 20 to 80) to evaluate its safety, determine a safe dosage

GHK-Cu Dosage Calculator And Guide What You MUST Know

Researchpeptides.org   DA: 24 PA: 26 MOZ Rank: 82

  • GHK-Cu Dose: 1.5 mg per day, injected subcutaneously or intramuscularly
  • You can also split the dose into several injections
  • Cycle: repeat once a year, or as desired
  • You should be able to safely increase quite a bit—perhaps up to 200 mg per day.

Technical Standards For The Interpretation And Reporting

Ncbi.nlm.nih.gov   DA: 20 PA: 25 MOZ Rank: 78

Introduction: Genome-wide assessment of copy number variants (CNVs), including losses (deletions) and gains (duplications and triplications), is recommended as a first-tier approach for the postnatal evaluation of individuals with intellectual disability, developmental delay, autism spectrum disorder, and/or multiple congenital anomalies, as well as for prenatal evaluation of fetuses with

Clinical Whole-Genome Sequencing Services

Illumina.com   DA: 16 PA: 43 MOZ Rank: 93

  • The Illumina Clinical Services Laboratory was the first clinical lab to generate a personal whole-genome sequence and remains a leading service provider today
  • Through programs like Understand Your Genome, our lab has performed clinical whole-genome sequencing for over 2000 asymptomatic adults, resulting in the world's largest cohort of

Y Calculator

Sequencing.com   DA: 14 PA: 44 MOZ Rank: 93

  • Our clinical-grade 30x Whole Genome Sequencing test obtains data on 100% of your genome
  • It is the only test that provides enough genetic data for the Comprehensive version of this report
  • For example, DNA data from any of the following test providers will work with this report: 23andMe, Ancestry, MyHeritage, FamilyTreeDNA, Vitagene, Dante Labs

Preparing For The Drug Dosage Calculation Competency Exam

Uvi.edu   DA: 11 PA: 50 MOZ Rank: 97

  • Applicants should review a drug dosage calculation textbook, brush up on calculation skills and be ready to demonstrate competency in calculating drug dosages
  • A score of 90% or better is required in order to pass the exam and two testing opportunities are permitted

Warfarin (Coumadin) – CYP2C9 / VKORC1 / CYP4F2 – …

Mydruggenome.org   DA: 20 PA: 14 MOZ Rank: 71

  • Genetic results can assist in the selection of a safe and effective starting dose of warfarin
  • This DGI provides a dosing algorithm that considers the VKORC1 and CYP2C9 genes mentioned above as well as clinical factors
  • The inclusion of CYP4F2 gene variations in dosing calculations are considered optional, but are also referenced below.

Genome-scale Network Analysis Of Imprinted Human Metabolic

Pubmed.ncbi.nlm.nih.gov   DA: 23 PA: 10 MOZ Rank: 71

  • System analysis of metabolic network reconstructions can be used to calculate functional states or phenotypes
  • This provides tools to study the metabolic effects of genetic and epigenetic properties, such as dosage sensitivity
  • We used the genome-scale reconstruction of human metabolism (Recon 1) to …

X-CNV: Genome-wide Prediction Of The Pathogenicity Of Copy

Genomemedicine.biomedcentral.com   DA: 32 PA: 36 MOZ Rank: 11

  • Clinical and genetics expertise is required, limiting its application for large-scale DNA sequencing data
  • In the third approach, gene-based haploinsufficiency predictions are used to estimate the effect of CNVs
  • In this, gene dosage sensitivity is a …

The $1,000,000 Genome Interpretation

Bio-itworld.com   DA: 19 PA: 50 MOZ Rank: 10

  • The lab section consists of a knowledgebase—the tests, genes, variants, drug dosing, etc—as well as an infrastructure to generate reports via the Genome Variant Interpretation Engine (GVIE)
  • On the clinical side is a new entity, the Patient Genome Explorer (PGE), which allows clinicians to receive test results from an affiliated lab and

Genome Sequencing

Sciencedirect.com   DA: 21 PA: 48 MOZ Rank: 9

  • Genome sequencing offers a glimpse into the molecular blueprint of an organism and by reading and decoding this information, chemists can employ cleaver methods to extract new metabolites from cultured organisms (Chapter 2.12) as well as from uncultured environmental communities (Chapter 2.13).

Whole Exome And Whole Genome Sequencing – Commercial

Uhcprovider.com   DA: 19 PA: 50 MOZ Rank: 8

  • Genome (e.g., unexplained constitutional or heritable disorder or syndrome), rapid sequence analysis : 0212U
  • Rare diseases (constitutional/heritable disorders), whole genome and mitochondrial DNA sequence analysis, including small sequence changes, deletions, duplications, short tandem repeat gene

A Phylogeny-based Sampling Strategy And Power Calculator

Genomemedicine.biomedcentral.com   DA: 32 PA: 35 MOZ Rank: 7

  • Whole genome sequencing is increasingly used to study phenotypic variation among infectious pathogens and to evaluate their relative transmissibility, virulence, and immunogenicity
  • To date, relatively little has been published on how and how many pathogen strains should be selected for studies associating phenotype and genotype
  • There are specific challenges when identifying genetic

Clinical Whole-Genome Sequencing Services

Assets.illumina.com   DA: 19 PA: 50 MOZ Rank: 6

  • The Illumina Clinical Services Laboratory was the first clinical lab to generate a personal whole-genome sequence and remains a leading service provider today
  • Through programs like Understand Your Genome, our lab has performed clinical whole-genome sequencing for over 2000 asymptomatic adults, resulting in the world's largest cohort of

Clinical Whole-Genome Sequencing Services

Tst-web.illumina.com   DA: 24 PA: 43 MOZ Rank: 5

  • The Illumina Clinical Services Laboratory was the first clinical lab to generate a personal whole-genome sequence and remains a leading service provider today
  • Through programs like Understand Your Genome, our lab has performed clinical whole-genome sequencing for over 2000 asymptomatic adults, resulting in the world's largest cohort of

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