Identification of non-coding silencer elements and their regulation of gene expression
B Pang, JH van Weerd, FL Hamoen… - … Reviews Molecular Cell …, 2023 - nature.com
Cell type-and differentiation-specific gene expression is precisely controlled by genomic non-
coding regulatory elements (NCREs), which include promoters, enhancers, silencers and …
coding regulatory elements (NCREs), which include promoters, enhancers, silencers and …
Finding the missing heritability of complex diseases
TA Manolio, FS Collins, NJ Cox, DB Goldstein… - Nature, 2009 - nature.com
Genome-wide association studies have identified hundreds of genetic variants associated
with complex human diseases and traits, and have provided valuable insights into their …
with complex human diseases and traits, and have provided valuable insights into their …
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer
Genome-wide association studies (GWAS) and large-scale replication studies have
identified common variants in 79 loci associated with breast cancer, explaining∼ 14% of the …
identified common variants in 79 loci associated with breast cancer, explaining∼ 14% of the …
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
RL Milne, KB Kuchenbaecker, K Michailidou… - Nature …, 2017 - nature.com
Most common breast cancer susceptibility variants have been identified through genome-
wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease …
wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease …
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche
Age at menarche is a marker of timing of puberty in females. It varies widely between
individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes …
individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes …
Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism
Endometriosis is a heritable hormone-dependent gynecological disorder, associated with
severe pelvic pain and reduced fertility; however, its molecular mechanisms remain largely …
severe pelvic pain and reduced fertility; however, its molecular mechanisms remain largely …
Large-scale genotyping identifies 41 new loci associated with breast cancer risk
K Michailidou, P Hall, A Gonzalez-Neira… - Nature …, 2013 - nature.com
Breast cancer is the most common cancer among women. Common variants at 27 loci have
been identified as associated with susceptibility to breast cancer, and these account for∼ …
been identified as associated with susceptibility to breast cancer, and these account for∼ …
Hereditary breast cancer: the era of new susceptibility genes
P Apostolou, F Fostira - BioMed research international, 2013 - Wiley Online Library
Breast cancer is the most common malignancy among females. 5%–10% of breast cancer
cases are hereditary and are caused by pathogenic mutations in the considered reference …
cases are hereditary and are caused by pathogenic mutations in the considered reference …
Genome-wide association study identifies five new breast cancer susceptibility loci
C Turnbull, S Ahmed, J Morrison, D Pernet… - Nature …, 2010 - nature.com
Breast cancer is the most common cancer in women in developed countries. To identify
common breast cancer susceptibility alleles, we conducted a genome-wide association …
common breast cancer susceptibility alleles, we conducted a genome-wide association …
Identification of genetic susceptibility loci for colorectal tumors in a genome-wide meta-analysis
BACKGROUND & AIMS: Heritable factors contribute to the development of colorectal
cancer. Identifying the genetic loci associated with colorectal tumor formation could …
cancer. Identifying the genetic loci associated with colorectal tumor formation could …