Phenotype data refers to the traits or characteristics that an organism displays, such as its physical appearance or behavior. It provides information about how an organism looks or functions, allowing scientists to study and understand the variations and patterns in different individuals or groups.
Full definition
Over several decades, thousands of sets of
phenotype data from BXD mice have been collected into databases, ranging from coat color to lifespan.
Over time, many cohorts grow both in the number of participants and the amount
of phenotype data collected.
We have generated rich genomic datasets for the scientific community, including an expansive atlas of genetic associations with metabolites, whole - genome sequence and
phenotype data for population cohorts in the UK10K project, as well as bioinformatic resources to facilitate the retrieval of information, including a metabolite network, a database of genotype - metabolite associations with our colleagues at the HelmHoltz institute, and a genome browser of UK10K association results.
When coupled
with phenotype data, such cohorts also provide greater power to study rare, deleterious variants in populations enriched for them.
The IMI could also control and organize access to metadata (the associated host
disease phenotype data, for a human gut microbiota sample, for instance) without which meaningful interpretation of the data is not possible.
By now, the BXD community has gathered around 300 million
phenotype data points from these animals, generating by far the largest coherent «phenome» (a set of all phenotypes expressed in an organism) for any animal experimental cohort.
Both the knockout and
normal phenotype data will be made available through the KOMP2 data coordination center so that researchers who acquire and study the knockout mice can compare various phenotypes.
This data is made even more impactful due to its rich annotations which allow it to be mapped to annotated
human phenotype data (via HPO mappings, as shown in the DIAB ontology).
These datasets include: the actual genome sequences of the 1,011 isolates; the list of 4,940 common «core» ORFs plus 2,856 ORFs that are variable within the population (together these make up the «pangenome»); copy number variation (CNV) data;
phenotyping data for 36 conditions; SNPs and indels relative to the S288C genome; and much more.
The RD - Connect Genome - Phenome Analysis Platform is currently focusing on genomics, and allows researchers to analyse NGS data (which includes Whole Genome and Whole Exome Sequencing as well as panel data) in combination
with phenotype data.
The Mammalian Phenotype Ontology as a unifying standard for experimental and high - throughput phenotyping data
Damian Smedley, GenomicsEngland - Use
of phenotype data to obtain novel insights into disease causes and mechanisms
If it were up to me, I'd select the subset of samples with the most
extensive phenotype data — biomarkers, clinical measurements, RNA - seq, health records, etc..
In addition, this center will build an integrated Web portal that will provide researchers access to
the phenotype data.
Data analyses of the combined genotype -
phenotype data (where applicable) will be performed collaboratively and each party will be free to: (i) use these datasets for its internal research; (ii) publish results; (iii) use published results for any and all purposes.
Trans - NIH Mouse Initiatives» Deltagen and Lexicon KO Mice and
Phenotype Data — links to key web pages.
The IMPC aims to generate a null mutation for every protein - coding gene in the mouse genome, to acquire broad - based
phenotype data for each mutation, and to disseminate the mutant resource and phenotype data to the scientific community.
For newly developed mouse mutant lines and phenotyping based on the IMPC pipeline,
phenotype data will be made publicly available with no delay on the IMPC portal.
In addition,
phenotype data and an animal welfare catalogue will be recorded in a public phenotype database such as IMPC.
She is also one of several principal investigators of a major NIH - funded effort called ClinGen (Clinical Genome Resource) to support broad sharing of genotype and
phenotype data and clinical annotations of genes and variants.