PMC:6037202 / 32440-33043 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/6037202","sourcedb":"PMC","sourceid":"6037202","source_url":"https://www.ncbi.nlm.nih.gov/pmc/6037202","text":"The filtering and assessment process applied to WGS data was also used for variants called from TCP data generated from the same 411 individuals. 108/110 TCP variants that passed filters and went forward for ACMG assessment were also called from WGS data, meaning that two variants (assessed as pathogenic) were not detected by WGS. This was because the VAF was marginally below the filtering threshold of 33% for ATM (c.2426C\u003eA [p.Ser809∗] [Ensembl: ENST00000278616; GenBank: NM_000051]) (7/22 [32%] reads) and MAX (c.97C\u003eT [p.Arg33∗] [Ensembl: ENST00000358664; GenBank: NM_002382]) (9/29 [31%] reads).","tracks":[]}