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Clinical genomic databases | Genome variation analysis

Technological advances have greatly increased the availability of human genomic sequencing. However, the capacity to analyze genomic data in a clinically meaningful way lags behind the ability to generate such data.Source text:(Solomon et al., 2013)…
OMIM
Dataset

OMIM Online Mendelian Inheritance in Man

A comprehensive, authoritative and timely research resource of curated…

A comprehensive, authoritative and timely research resource of curated descriptions of human genes and phenotypes and the relationships between them. OMIM® is based on the published peer-reviewed…

ClinVar
Dataset

ClinVar

Provides germline and somatic variants of any size, type or genomic location.…

Provides germline and somatic variants of any size, type or genomic location. ClinVar gathers interpretations of clinical significance of variants for reported conditions. It accepts submissions from…

MCG
Nontypeable

MCG My Cancer Genome

A precision cancer medicine knowledge resource for physicians, patients,…

A precision cancer medicine knowledge resource for physicians, patients, caregivers and researchers. My Cancer Genome gives up-to-date information on what mutations make cancers grow and related…

CIViC
Dataset

CIViC Clinical Interpretations of Variants in Cancer

Describes the therapeutic, prognostic, and diagnostic relevance of inherited…

Describes the therapeutic, prognostic, and diagnostic relevance of inherited and somatic variants of all types. CIViC is committed to open source code, open access content, public application…

ClinGen
Dataset

ClinGen Clinical Genome Resource

A National Institutes of Health (NIH)-funded resource dedicated to building an…

A National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genomic variants for use in precision medicine and…

JG-SNP
Dataset

JG-SNP Japanese Single Nucleotide Polymorphism for Geriatric Research

Collects information about genetic polymorphisms topic. JG-SNP is an online…

Collects information about genetic polymorphisms topic. JG-SNP is an online resource that informs about allele frequencies of single nucleotide polymorphisms (SNPs) of candidate genes and…

UMD-CFTR
Dataset

UMD-CFTR

Combines a relational database with various functions that can be directly…

Combines a relational database with various functions that can be directly queried online and shared by users. UMD-CFTR is a database designed for extensive collection and analysis of disease-causing…

KDD
Dataset

KDD Kawasaki Disease Database

Facilitates the usage of clinical and genetic data collected by the Korean…

Facilitates the usage of clinical and genetic data collected by the Korean Kawasaki Disease Genetics Consortium (KKDGC). KDD was built by collecting clinical data of kawasaki disease (KD) patients…

PMKB
Dataset

PMKB Precision Medicine Knowledge Base

Provides information about clinical cancer variants and interpretations in a…

Provides information about clinical cancer variants and interpretations in a structured way. PMKB is an interactive online application for collaborative editing, maintenance, and sharing of…

COL7A1…
Dataset

COL7A1 mutation database

Provides a registry for clinicians, genetic counselors, and researchers about…

Provides a registry for clinicians, genetic counselors, and researchers about dystrophic epidermolysis bullosa DEB patients and their associated COL7A1 mutations. The international dystrophic…

GeneTests
Dataset

GeneTests

Offers a medical genetics information resource for physicians, genetic…

Offers a medical genetics information resource for physicians, genetic counselors, healthcare providers and researchers. GeneTests promotes the appropriate use of genetic testing and its use in…

varDB
Dataset

varDB

Focuses on issues specific to the study of antigenic variation that are common…

Focuses on issues specific to the study of antigenic variation that are common across gene families. varDB aims to serve as a workspace, comprising analytical tools and sequence management…

GeMCRIS
Dataset

GeMCRIS Genetic Modification Clinical Research Information System

Delivers data about human gene transfer. GeMCRIS provides human gene transfer…

Delivers data about human gene transfer. GeMCRIS provides human gene transfer trials registered with the NIH, including medical conditions under study. It contains preformatted reports and allows…

OncoKB
Dataset

OncoKB

Contains information about the effects and treatment implications of specific…

Contains information about the effects and treatment implications of specific cancer gene alterations. OncoKB is a precision oncology knowledge base that offers oncologists detailed information about…

CDS-KB
Dataset

CDS-KB Clinical Decision Support KnowledgeBase

Catalogs and shares clinical decision support (CDS) implementation artifacts…

Catalogs and shares clinical decision support (CDS) implementation artifacts and design considerations for genomic medicine programs from a broad community of institutions. CDS-KB is a database which…

Personalized…
Dataset

Personalized Cancer Therapy

Allows physicians and patients to assess potential therapy options based on…

Allows physicians and patients to assess potential therapy options based on specific tumor biomarkers. Personalized Cancer Therapy integrates information about tumor DNA, RNA, protein and metabolomic…

CGD
Dataset

CGD Clinical Genomic Database

A manually curated database of conditions with known genetic causes, focusing…

A manually curated database of conditions with known genetic causes, focusing on medically significant genetic data with available interventions. All conditions with identified genetic causes are…

GeneReviews
Dataset

GeneReviews

A collection of peer-reviewed inherited disease descriptions written by experts…

A collection of peer-reviewed inherited disease descriptions written by experts with extensive and thoughtful editing. It contains phenotypic information and information on selected variants, and its…

D-HaploDB
Dataset

D-HaploDB The Definitive Haplotype Database

Provides a genome-wide map of haplotypes obtained by genotyping over 281 440…

Provides a genome-wide map of haplotypes obtained by genotyping over 281 440 common single nucleotide polymorphisms (SNPs) in 74 complete hydatidiform moles (CHM) samples that were collected…

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