A new method, based on gene editing with oligonucleotides and functional analyses, identifies which variants of DNA repair genes associated with Lynch syndrome are truly harmful and which are not.

Despite the development of cutting-edge genetic testing techniques and considerable progress in our understanding of the genetic basis of idiopathic pulmonary fibrosis (IPF), missing heritability and ...

Familial Hypobetalipoproteinemia (FHBL), caused by variants in the apolipoprotein B (APOB) gene, is a rare autosomal ...

Please provide your email address to receive an email when new articles are posted on . The impact level of the variant on type VII collagen protein expression was linked to disease severity.

A lack of diversity in large genomic studies presents a major challenge in understanding how pathogenic variants impact different populations. To address this problem and advance precision medicine ...

Relationship Among DNA Damage Response Gene Alterations, Molecular Subtypes, and Survival Outcomes in Patients With Metastatic Bladder Cancer Treated on CALGB 90601 Sequencing data from 56,965 ...

Please provide your email address to receive an email when new articles are posted on . Five- and 10-year risks for second primary breast cancer were lower for women without vs. with pathogenic ...

Figure 6. Mexican family carrying the truncated mutant pR552*. (A) Pedigree Analysis: The family pedigree indicates that the father and all three sons present the disease. (B) Data from the family ...

Genetic variation is the foundation of human diversity, enabling differences in traits such as height, eye color, or blood type. Some sequence variants also cause inherited diseases, including sickle ...