Noncoding sequence contains pathogenic mutations. Yet, compared with mutations in
protein-coding sequence, pathogenic regulatory mutations are notoriously difficult to recognize. …

Identifying the underlying causes of disease requires accurate interpretation of genetic variants.
Current methods ineffectively capture pathogenic non-coding variants in genic regions, …

Genome-wide association studies (GWAS) often identify disease-associated mutations in
intergenic and non-coding regions of the genome. Given the high percentage of the human …

Purpose: An emerging approach in medical genetics is to identify de novo mutations in patients
with severe early-onset genetic disease that are absent in population controls and in the …

Deep vein thrombosis and pulmonary embolism, collectively defined as venous
thromboembolism (VTE), are the third leading cause of cardiovascular death in the United States. …

Despite considerable progress in schizophrenia genetics, most findings have been for large
rare structural variants and common variants in well-imputed regions with few genes …

Anorexia nervosa (AN) and obsessive–compulsive disorder (OCD) are often comorbid and
likely to share genetic risk factors. Hence, we examine their shared genetic background …

Tandem repeat expansions (TREs) are associated with over 60 monogenic disorders and
have recently been implicated in complex disorders such as cancer and autism spectrum …

Folding to a well-defined conformation is essential for the function of structured ribonucleic
acids (RNAs) like the ribosome and tRNA. Structured elements in the untranslated regions (…

Sudden unexplained death in childhood (SUDC) is an understudied problem. Whole-exome
sequence data from 124 “trios” (decedent child, living parents) was used to test for …