Rare and common variants: twenty arguments
G Gibson - Nature Reviews Genetics, 2012 - nature.com
Genome-wide association studies have greatly improved our understanding of the genetic
basis of disease risk. The fact that they tend not to identify more than a fraction of the specific …
basis of disease risk. The fact that they tend not to identify more than a fraction of the specific …
Genome-wide association studies for complex traits: consensus, uncertainty and challenges
The past year has witnessed substantial advances in understanding the genetic basis of
many common phenotypes of biomedical importance. These advances have been the result …
many common phenotypes of biomedical importance. These advances have been the result …
Can AlphaFold2 predict the impact of missense mutations on structure?
GR Buel, KJ Walters - Nature structural & molecular biology, 2022 - nature.com
To the Editor—Understanding the impact that missense mutations have on protein structure
helps to reveal their biological effects. Although the structural prediction algorithm of …
helps to reveal their biological effects. Although the structural prediction algorithm of …
Accurate classification of BRCA1 variants with saturation genome editing
GM Findlay, RM Daza, B Martin, MD Zhang, AP Leith… - Nature, 2018 - nature.com
Variants of uncertain significance fundamentally limit the clinical utility of genetic information.
The challenge they pose is epitomized by BRCA1, a tumour suppressor gene in which …
The challenge they pose is epitomized by BRCA1, a tumour suppressor gene in which …
Prevalence of homologous recombination–related gene mutations across multiple cancer types
AL Heeke, MJ Pishvaian, F Lynce, J Xiu… - JCO precision …, 2018 - ascopubs.org
Purpose The prevalence of homologous recombination DNA damage repair (HR-DDR)
deficiencies among all tumor lineages is not well characterized. Therapy directed toward …
deficiencies among all tumor lineages is not well characterized. Therapy directed toward …
[HTML][HTML] Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework
Abstract Purpose We evaluated the American College of Medical Genetics and
Genomics/Association for Molecular Pathology (ACMG/AMP) variant pathogenicity …
Genomics/Association for Molecular Pathology (ACMG/AMP) variant pathogenicity …
[HTML][HTML] Gene-panel sequencing and the prediction of breast-cancer risk
Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk | NEJM Skip to main content
NEJM Group Follow Us Facebook Twitter Instagram YouTube LinkedIn Prepare to become a …
NEJM Group Follow Us Facebook Twitter Instagram YouTube LinkedIn Prepare to become a …
[HTML][HTML] Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer
Purpose Recent advances in DNA sequencing have led to the development of breast cancer
susceptibility gene panels for germline genetic testing of patients. We assessed the …
susceptibility gene panels for germline genetic testing of patients. We assessed the …
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
PR Sosnay, KR Siklosi, F Van Goor, K Kaniecki, H Yu… - Nature …, 2013 - nature.com
Allelic heterogeneity in disease-causing genes presents a substantial challenge to the
translation of genomic variation into clinical practice. Few of the almost 2,000 variants in the …
translation of genomic variation into clinical practice. Few of the almost 2,000 variants in the …
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines
Recently, we demonstrated that the qualitative American College of Medical Genetics and
Genomics/Association for Medical Pathology (ACMG/AMP) guidelines for evaluation of …
Genomics/Association for Medical Pathology (ACMG/AMP) guidelines for evaluation of …