Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …

Despite advances in clinical genetic testing, including the introduction of exome sequencing
(ES), more than 50% of individuals with a suspected Mendelian condition lack a precise …

We report on the influence of~ 22 million variants on 731 immune cell traits in a cohort of
3,757 Sardinians. We detected 122 significant (P< 1.28× 10− 11) independent association …

Clonal hematopoiesis (CH) arises when a substantial proportion of mature blood cells is
derived from a single hematopoietic stem cell lineage. Using whole-genome sequencing of …

It is estimated that 350 million individuals worldwide suffer from rare diseases, which are
predominantly caused by mutation in a single gene. The current molecular diagnostic rate is …

Nearly all human complex traits and disease phenotypes exhibit some degree of sex
differences, including differences in prevalence, age of onset, severity or disease …

Alternative splicing is a tightly regulated biological process by which the number of gene
products for any given gene can be greatly expanded. Genomic variants in splicing …

Aging negatively impacts vitality and health. Many genetic pathways that regulate aging
were discovered in invertebrates. However, the genetics of aging is more complex in …

RNA sequencing (RNA-seq) is gaining popularity as a complementary assay to genome
sequencing for precisely identifying the molecular causes of rare disorders. A powerful …

INTRODUCTION The human genome contains tens of thousands of rare (minor allele
frequency< 1%) variants, some of which contribute to disease risk. Using 838 samples with …