Accuracy of non-reference allele frequency estimation at HapMap/58C intersection variants for the Pool of 50 after duplicate removal.Aaron, G. DayWilliamsKirsten, McLayEleanor, DrurySarah, EdkinsAlison, J. CoffeyAarno, PalotieEleftheria, Zeggini...
variant_description When searching using a VCF, a semi-colon separated list of variant descriptions in the format id:pos:ref>alt:af where pos is the position within the alignment and af is the allele frequency of the alternate allele. variant_vcf When searching using a VCF, a string composed...
6. Poster session 2Morphogenetic mechanisms290MiR-133 regulates retinoic acid pathway during early cardiac chamber specification291Bmp2 regulates atrial differentiation through miR-130 during early heart looping formationDevelopmental genetics294Association of deletion allele of insertion/deletion polymorphism in ...
For the categories “INS > 200” and “DEL > INS”, two or three primer pairs were designed including at least one for each allele. For “INS < 200”, only a single primer pair was designed that may amplify in both alleles. For “Different contig” always three and for “Singleton”...
Genotyping of the HCN2-NRS revealed that the insertion is enriched in IAZ (minor allele frequency = 0.45) compared to other reference populations tested. This study shows that inclusion of population-specific NRSs can dramatically change the variant profile in an underrepresented ethnic groups and ...