A simple method to estimate the in-house limit of detection for genetic mutations with low allele frequencies in whole-exome sequencing analysis by next-generation sequencing

Next-generation sequencing (NGS) has profoundly changed the approach to genetic/genomic research. Particularly, the clinical utility of NGS in detecting mutations associated with disease risk has contributed t...

Source: BMC Genetics - February 18, 2021 Category: Genetics & Stem Cells Authors: Takumi Miura, Satoshi Yasuda and Yoji Sato Tags: Methodology article Source Type: research