Overall, among 387 ISGs examined in 7595 individuals, more than half of the genes carried a stop-gain or frameshift variant in 1 or more individuals, usually at low allele frequency. Of these, 12 individuals carried truncating variants consistently interpreted as highly pathogenic by the three evaluated scores.
Jul 24, 2014
Overall, among 387 ISGs examined in 7595 individuals, more than half of the genes carried a stop-gain or frameshift variant in 1 or more individuals, usually at ...
Jul 24, 2014 · Loss-of-function variants in innate immunity genes are associated with Mendelian disorders in the form of primary immunodeficiencies.
Rank percentile distributions of pathogenicity scores for rare stop-gain variants (MAF<1%) are shown in different sets of genes: protein coding genome ...
Mar 17, 2014 · consequences of stop-gain and frameshift variants in innate immunity genes. Herein, we will refer to these analyses as “sequence-based”. For ...
The classification scheme was applied in the assessment of 335 stop-gains and 236 frameshifts affecting 227 interferon-stimulated genes. The sequence-based ...
Analysis of Stop-Gain and Frameshift Variants in Human Innate Immunity Genes · Antonio Rausell · Pejman Mohammadi · Paul J. McLaren · Istvan Bartha · Ioannis ...
Analysis of Stop-Gain and Frameshift Variants in Human Innate Immunity Genes ; Einstein, Newton and Pascal are hanging out one afternoon. November 11, 2012.
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Jul 29, 2022 · Analysis of stop-gain and frameshift variants in human innate immunity genes. PLoS Comput Biol. 2014; 10(7):1003757. Article CAS Google ...
Loss-of-function variants in innate immunity genes are associated with Mendelian disorders in the form of primary immunodeficiencies.