suggesting either gonadal mosaicism or a second deletion event in maternal meiosis. Of the 14 mutations, 6 occurred de novo within 2 generations; 4 in males and 2 in females. In these de novo ...
Now, two studies have finally identified the genetic key to this mystery, solving a puzzle first theorized in 1912. The studies, conducted independently by Japanese and American research teams, have ...
Variant and copy number calls are made using a unique bioinformatics pipeline detecting all types of mutations including single nucleotide substitutions, indels, and frameshifts caused by deletion/ ...
Variant and copy number calls are made using a unique bioinformatics pipeline detecting all types of mutations including single nucleotide substitutions, indels, and frameshifts caused by deletion/ ...
or a nonsynonymous mutation, resulting in an amino acid change that may have an impact on the function of the encoded protein. Single nucleotide insertion or deletion in protein coding sequences ...