<p>* Exome Aggregation Consortium (<a href="http://exac.broadinstitude.org/" target="_blank">http://exac.broadinstitude.org</a>)</p><p><sup>#</sup> The allele frequency in the ExAC database does not contain representative controls for all ethnic groups.</p><p>M: Missense, S: Splice site, F: Frameshift, NS: Nonsense, MT: MutationTaster, DC: Disease causing, PD: Probably Damaging, PsD: Possibly Damaging, D: Damaging, T: Tolerated, NA: Not available</p><p>Characteristics of the identified variants in the study.</p
Genome-wide association studies (GWAS) have successfully described the roles of common genetic varia...
Genome-wide association studies have uncovered thousands of common variants associated with human di...
Large-scale reference data sets of human genetic variation are critical for the medical and function...
Recommendations for laboratories to report incidental findings from genomic tests have stimulated in...
<p>Ref = reference allele, Alt = alternate allele. Alt Freq = alternate allele frequency (consensus ...
The incorporation of genomics into medicine is stimulating interest on the return of incidental find...
Summary Large-scale reference data sets of human genetic variation are critical for the medical and ...
§§<p>The subjects from Surolia et al. (4) and Hirschfield et al. (5) include controls and autoimmune...
<p><b>(A)</b> Variant pathogenicity based on scaled CADD scores is significantly higher in familial ...
<p>Functional impact of variants was predicted by a consensus of Polyphen2 and SIFT. Rare variants (...
Next generation sequencing (NGS) technologies such as whole genome and whole exome sequencing has en...
Background: Dramatic improvements in DNA-sequencing technologies and computational ...
Introduction & Objective: Rare variants with allele frequency smaller than 1% are postulated to ...
Computational tools are widely used for interpreting variants detected in sequencing projects. The c...
The genetic architecture of ischemic stroke is complex and is likely to include rare or low frequenc...
Genome-wide association studies (GWAS) have successfully described the roles of common genetic varia...
Genome-wide association studies have uncovered thousands of common variants associated with human di...
Large-scale reference data sets of human genetic variation are critical for the medical and function...
Recommendations for laboratories to report incidental findings from genomic tests have stimulated in...
<p>Ref = reference allele, Alt = alternate allele. Alt Freq = alternate allele frequency (consensus ...
The incorporation of genomics into medicine is stimulating interest on the return of incidental find...
Summary Large-scale reference data sets of human genetic variation are critical for the medical and ...
§§<p>The subjects from Surolia et al. (4) and Hirschfield et al. (5) include controls and autoimmune...
<p><b>(A)</b> Variant pathogenicity based on scaled CADD scores is significantly higher in familial ...
<p>Functional impact of variants was predicted by a consensus of Polyphen2 and SIFT. Rare variants (...
Next generation sequencing (NGS) technologies such as whole genome and whole exome sequencing has en...
Background: Dramatic improvements in DNA-sequencing technologies and computational ...
Introduction & Objective: Rare variants with allele frequency smaller than 1% are postulated to ...
Computational tools are widely used for interpreting variants detected in sequencing projects. The c...
The genetic architecture of ischemic stroke is complex and is likely to include rare or low frequenc...
Genome-wide association studies (GWAS) have successfully described the roles of common genetic varia...
Genome-wide association studies have uncovered thousands of common variants associated with human di...
Large-scale reference data sets of human genetic variation are critical for the medical and function...