Author
Ambry Genetics (United States)ORCID 0000-0001-7176-1964Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Anton Mikhailovich Safonov, Tomoki T. Nomakuchi, Elizabeth Chao…·Theodore G. Drivas
The paper identifies a higher prevalence of NF1 pathogenic variants using a genotype-first approach, finding many cases with somatic mosaicism and increased cancer risk.
Shuwei Li, Keren Carss, Bjarni V. Halldórsson, Adrián Cortés
Whole-genome sequencing of 490,640 UK Biobank participants calls SNPs, insertions/deletions, and structural variants and maps binary and quantitative phenotype associations across five ancestry groups.
Karen He, Ekaterina A. Khramtsova, Alfredo Cabrera‐Socorro…·Mary Helen Black
This study examines APOE Christchurch carriers in UK Biobank to assess their risk of Alzheimer's disease, cardiovascular disease, and dyslipidemia, finding lower apoB levels and reduced AD risk.
Steven N. Hart, Eric C. Polley, Amal Yussuf…·Jill S. Dolinsky
The paper develops a tool to estimate mutation prevalence in hereditary cancer genes based on clinical and demographic factors using data from 150,000 multi-gene panel tests.