scholarly journals A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America

2012 ◽  
Vol 158A (5) ◽  
pp. 1229-1232 ◽  
Author(s):  
Catrina Loucks ◽  
Jillian S. Parboosingh ◽  
Jessica X. Chong ◽  
Carole Ober ◽  
Victoria M. Siu ◽  
...  
PeerJ ◽  
2020 ◽  
Vol 8 ◽  
pp. e9255 ◽  
Author(s):  
Carlos Farkas ◽  
Francisco Fuentes-Villalobos ◽  
Jose Luis Garrido ◽  
Jody Haigh ◽  
María Inés Barría

Here we aim to describe early mutational events across samples from publicly available SARS-CoV-2 sequences from the sequence read archive and GenBank repositories. Up until 27 March 2020, we downloaded 50 illumina datasets, mostly from China, USA (WA State) and Australia (VIC). A total of 30 datasets (60%) contain at least a single founder mutation and most of the variants are missense (over 63%). Five-point mutations with clonal (founder) effect were found in USA next-generation sequencing samples. Sequencing samples from North America in GenBank (22 April 2020) present this signature with up to 39% allele frequencies among samples (n = 1,359). Australian variant signatures were more diverse than USA samples, but still, clonal events were found in these samples. Mutations in the helicase, encoded by the ORF1ab gene in SARS-CoV-2 were predominant, among others, suggesting that these regions are actively evolving. Finally, we firmly urge that primer sets for diagnosis be carefully designed, since rapidly occurring variants would affect the performance of the reverse transcribed quantitative PCR (RT-qPCR) based viral testing.


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