Omics

Newborn screening programs that seek out common mutations often fail to diagnose cystic fibrosis in nonwhite populations.

Shotgun sequencing is a powerful tool in microbial genomics, but viral genomes have proven tough to crack.

Hirschsprung disease (HSCR) is a congenital form of megacolon that occurs when the ganglion cells of the digestive tract fail to develop, impairing or eliminating function.

This paper is one of a number published over the last year that examine the potential for liquid biopsy in colorectal cancer.

C-reactive protein levels and genetic variations are linked to increased risk of a second ischemic stroke

Regulatory RNA-binding protein hnRNP H1 may play a role in the genetics of methamphetamine sensitivity and other substance addictions

Iron's influence on neurodegenerative disease may support prevention or early diagnosis.

We've come a long, long way already. Where to next for next generation sequencing?

An excess of osteoclasts is the culprit behind brittle bones in Hajdu-Cheney syndrome.

Understanding the genetic basis of recurrent IVF failure may help counsel couples.