Genetic mutations in human DNA can prevent proteins that perform important functions in the body from being formed correctly. This can lead to serious disorders that cause disease or even disability.
The non-coding genome, once dismissed as "junk DNA", is now recognized as a fundamental regulator of gene expression and a key player in understanding complex diseases. Following the landmark ...
Disparate Rates of Germline Variants in Cancer Predisposition Genes in African American/Black Compared With Non-Hispanic White Individuals Between 2015 and 2022 There has been a revolution in genomic ...
Understanding Bioinformatics Workflows for NGS Analysis: Case Study with Whole-exome Sequencing Data
NGS enables the in-depth analysis of the genome and the identification and investigation of disease-associated variants–especially when workflows include target enrichment, which focuses on specific ...
Transformed SCLC from EGFR-mutated LUAD shows a unique mutational profile, complicating treatment approaches and highlighting the need for tailored therapies. Whole exome sequencing revealed ...
Scientists at the Baylor College of Medicine and collaborating institutions used complementary approaches that integrate exome sequencing and evolutionary action machine learning to identify protein ...
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