As a start , using GBS , we genotyped a USDA kabuli mini - core collection of 88 accessionsdiscovering174,040 variants
a large number of diseasecausingCFTR variants
through genome - wide studies(passive) were also discoveredFTO variants
A whole exome variant filtering software for identification of diseasecausingvariants
independently ... recurrent mutation in each region where a single haplotype predominates(passive) originated ... byHBB*S variants
diseasecausingvariant(s
copy number variation including and/or regulating the KIT gene and several other mutations(passive) caused byvariants
using genomic sequencing , a process where the virus 's genetic material is analyzed piece by piece to detect differences between strains(passive) are discoveredVariants
immunologically relevant linear epitopes of multiple Lymecausingborrelia variants
This study ... to be through the total genetic sequence ( genometo discovervariants
Exome sequencing can capture about 85 % of known diseasecausingvariants
by each donor , neutralization and sequence data(passive) contributed byE1E2 variants
by genome - wide association studies ( GWAS ) and(passive) discovered byVariants
by genome - wide association studies ( GWAS(passive) discovered byVariants
the identification of potential diseasecausingvariants
to sequence a subset of the sample ... , and genotype the identified variants in the remaining sampleto discovervariants
to identify possible diseasecausingvariants
rare and novel diseasecausingvariants
by genome - wide association studies and linkage studies(passive) discovered byVariants
by whole exome sequencing(passive) discovered byvariants
also diseasecausingvariants
by genome - wide association studies(passive) discovered byVariants
seven novel likely diseasecausingvariants
by next - generation sequencing ( NGS(passive) discovered byvariants
two diseasecausingvariants
possible diseasecausingvariants
known diseasecausingvariants
using different strategies(passive) were designedChymosin variants
used RAD - seq data from a mapping populationto discovervariants
7 novel likely diseasecausingvariants
10 potential diseasecausingvariants
any potential diseasecausingvariants
potential diseasecausingvariants
the identification of diseasecausingvariants
identification of diseasecausingvariants
novel diseasecausingvariants
our ability to distinguish between normal and diseasecausingvariants
clinical interpretation of the sequence information and confirmation of diseasecausingvariants
identifying potential diseasecausingvariants
in the present studydiscoveredin the present study
in impaired UV - B - induced photomorphogenesisresultin impaired UV - B - induced photomorphogenesis
to disease developmentleadto disease development
to improve loss recoverydesignedto improve loss recovery
for improved accuracydesignedfor improved accuracy
early onset epilepsy and severe intellectual disabilitycauseearly onset epilepsy and severe intellectual disability
viral persistence and progression to cervical cancer , which partly explains the high prevalence of this cancer in some populations compared to othermay influenceviral persistence and progression to cervical cancer , which partly explains the high prevalence of this cancer in some populations compared to other
Alzheimer disease ( AD ) risk through gene expression regulationinfluenceAlzheimer disease ( AD ) risk through gene expression regulation
to counter ballistic missilesdesignedto counter ballistic missiles
to identify specific variants that result in dysfunction of the protein productdiscoveredto identify specific variants that result in dysfunction of the protein product
diseases due to their effect on protein stability , function or protein - protein interaction networkcausediseases due to their effect on protein stability , function or protein - protein interaction network
pigmentary retinopathy associated with Heimler syndrome with a variable clinical presentationcausepigmentary retinopathy associated with Heimler syndrome with a variable clinical presentation
protein - coding changes in individual human genomescausingprotein - coding changes in individual human genomes
to changes in the amino acid sequence or expression of the genemight leadto changes in the amino acid sequence or expression of the gene
autosomal recessive macrothrombocytopenia without associated muscle wastingcausingautosomal recessive macrothrombocytopenia without associated muscle wasting
to changes in protein structure ( nonsense , missense , frameshift , and splice site mutationsleadingto changes in protein structure ( nonsense , missense , frameshift , and splice site mutations
through detailed sequencing , genetic association , expression , and functional studiescausethrough detailed sequencing , genetic association , expression , and functional studies
in association studies of these traits and risk of type 2 diabetesinitially discoveredin association studies of these traits and risk of type 2 diabetes
to risk for complex diseasescontributingto risk for complex diseases
a change in the amino acid sequence of a protein encoded by a genecausea change in the amino acid sequence of a protein encoded by a gene
CD through detailed sequencing , genetic association , expression , and functional studiescauseCD through detailed sequencing , genetic association , expression , and functional studies
complex , common phenotypes including T2Dinfluencingcomplex , common phenotypes including T2D
a hereditary cancer predisposition syndrome with variable penetrancecausea hereditary cancer predisposition syndrome with variable penetrance
to the genetic variance of complex diseasescontributing substantiallyto the genetic variance of complex diseases
to complex trait variation across mapping populationscontributingto complex trait variation across mapping populations
Alzheimer disease ( AD ) riskinfluenceAlzheimer disease ( AD ) risk
nonsynonymous , nonsense , or splice - site substitutions and frameshift variants in the coding regions or splice signal sequencescausingnonsynonymous , nonsense , or splice - site substitutions and frameshift variants in the coding regions or splice signal sequences
Zellweger syndromecausingZellweger syndrome
to complex phenotypes and diseasescontributeto complex phenotypes and diseases
the level of genes expressed in two regions of the braininfluencethe level of genes expressed in two regions of the brain
to the risk of a number of common diseases and other traitscontributingto the risk of a number of common diseases and other traits
facial morphology in humans ... including some variants with large effectsinfluencefacial morphology in humans ... including some variants with large effects
the severity of the different characteristics of Marfan Syndrome patientsmight influencethe severity of the different characteristics of Marfan Syndrome patients
to an amino acid change in the protein sequence ( missense , nonsense , frameshift ) andleadingto an amino acid change in the protein sequence ( missense , nonsense , frameshift ) and
well being and disease responseinfluencewell being and disease response
due to their effect on protein stability , function or protein - protein interaction networkcausedue to their effect on protein stability , function or protein - protein interaction network
the development and treatment of common forms of epilepsyinfluencethe development and treatment of common forms of epilepsy
a non - disease phenotype , such as lactose intolerancecausea non - disease phenotype , such as lactose intolerance