Telomeres are highly conserved tandem nucleotide repeats that include proximal double-
stranded and distal single-stranded regions that in complex with shelterin proteins afford …

The 2013 discovery of Telomerase reverse transcriptase (TERT) promoter mutations chr5,
1,295,228 C> T (C228T) and 1,295,250 C> T (C250T) in thyroid cancer represents an …

Importance Estimates of familial cancer risk from population-based studies are essential
components of cancer risk prediction. Objective To estimate familial risk and heritability of …

We simultaneously investigated the genetic landscape of ankylosing spondylitis, Crohn's
disease, psoriasis, primary sclerosing cholangitis and ulcerative colitis to investigate …

Mosaic loss of chromosome Y (LOY) in circulating white blood cells is the most common
form of clonal mosaicism,,,–, yet our knowledge of the causes and consequences of this is …

Technology utilizing human induced pluripotent stem cells (iPS cells) has enormous
potential to provide improved cellular models of human disease. However, variable genetic …

Abstract In 2020, 146,063 deaths due to pancreatic cancer are estimated to occur in Europe
and the United States combined. To identify common susceptibility alleles, we performed the …

Background Previous genome-wide association studies (GWAS) have identified 42 loci (P<
5× 10− 8) associated with risk of colorectal cancer (CRC). Expanded consortium efforts …

Studies of rare and common illnesses have led to remarkable progress in the understanding
of the role of telomeres (nucleoprotein complexes at chromosome ends essential for …

In recent years pleiotropy, the phenomenon of one genetic locus influencing several traits,
has become a widely researched field in human genetics. With the increasing availability of …