The personal and clinical utility of polygenic risk scores

A Torkamani, NE Wineinger, EJ Topol - Nature Reviews Genetics, 2018 - nature.com
Initial expectations for genome-wide association studies were high, as such studies
promised to rapidly transform personalized medicine with individualized disease risk …

Aspirin and colorectal cancer: the promise of precision chemoprevention

DA Drew, Y Cao, AT Chan - Nature Reviews Cancer, 2016 - nature.com
Aspirin (acetylsalicylic acid) has become one of the most commonly used drugs, given its
role as an analgesic, antipyretic and agent for cardiovascular prophylaxis. Several decades …

Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray

Y Chen, M Lemire, S Choufani, DT Butcher… - Epigenetics, 2013 - Taylor & Francis
DNA methylation, an important type of epigenetic modification in humans, participates in
crucial cellular processes, such as embryonic development, X-inactivation, genomic …

Genetics and genetic biomarkers in sporadic colorectal cancer

JM Carethers, BH Jung - Gastroenterology, 2015 - Elsevier
Sporadic colorectal cancer (CRC) is a somatic genetic disease in which pathogenesis is
influenced by the local colonic environment and the patient's genetic background …

Functional normalization of 450k methylation array data improves replication in large cancer studies

JP Fortin, A Labbe, M Lemire, BW Zanke, TJ Hudson… - Genome biology, 2014 - Springer
We propose an extension to quantile normalization that removes unwanted technical
variation using control probes. We adapt our algorithm, functional normalization, to the …

The role of enhancers in cancer

I Sur, J Taipale - Nature Reviews Cancer, 2016 - nature.com
Enhancer elements function as the logic gates of the genetic regulatory circuitry. One of their
most important functions is the integration of extracellular signals with intracellular cell fate …

Genetics of cleft lip and cleft palate

EJ Leslie, ML Marazita - … Journal of Medical Genetics Part C …, 2013 - Wiley Online Library
Orofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or
as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with …

Determining risk of colorectal cancer and starting age of screening based on lifestyle, environmental, and genetic factors

J Jeon, M Du, RE Schoen, M Hoffmeister, PA Newcomb… - Gastroenterology, 2018 - Elsevier
Background & Aims Guidelines for initiating colorectal cancer (CRC) screening are based
on family history but do not consider lifestyle, environmental, or genetic risk factors. We …

Molecular basis of colorectal cancer

SD Markowitz, MM Bertagnolli - New England journal of …, 2009 - Mass Medical Soc
This review gives an account of recent advances in our knowledge of the molecular
mechanisms in colorectal cancer. Genetic changes in the germ line, combined with somatic …

Uncovering the roles of rare variants in common disease through whole-genome sequencing

ET Cirulli, DB Goldstein - Nature Reviews Genetics, 2010 - nature.com
Although genome-wide association (GWA) studies for common variants have thus far
succeeded in explaining only a modest fraction of the genetic components of human …