… variants in which the major alleles are derived. These analyses indicate that the majority of
the genetic variation in … selection, and have direct relevance to the study of human disease. …

… the Delta SARS-CoV-2 variant, and derived relevant observations. … and the direct comparison
of viral genomes and genetic variants in … of variants and/or mutations of potential concern. …

… to include rare genetic variants that cause heritable genetic diseases and have direct clinical
… positions that were reported in hg37 to hg38 coordinates for direct comparison with NGS …

… that specific genetic variation among populations contributes appreciably to differences in
gene … The most direct comparison between CEU and CHB+JPT, with respect to regulatory …

… for each variant to be disease causing. In this report, we highlight the principles of variant …
By sharing our experience and providing a framework for variant assessment, including …

… one pairwise comparison of genetic variances for … comparison of genetic variances (r 1 in
Table 1). The leading eigenvector of R represented a trait combination that has a high genetic …

… We further confirm previous suggestions that certain genetic variants at the MN locus
entirely lack glycophorin A"*", but genetically determined loss of MN activity is not necessarily …

… directly comparing short reads between two samples is not very effective. Instead, genetic
variants … , can identify a broad range of genetic variants. For example, two genomes differing in …

… Single gene disorders are usually caused by genetic variants that … gene-specific comparison
with SNP-chip genotypes in UKB, we included directly genotyped single nucleotide variants…

Our understanding of the genetic basis of disease has evolved from descriptions of overall
heritability or familiality to the identification of large numbers of risk loci. One can quantify the …