Rare Disease

Biotech

Newborn Genome Sequencing: What GUARDIAN and England’s Generation Study Have Reported So Far

Two large programs are testing whether a baby's genome can catch treatable conditions that heel-prick screening misses. Here are the published numbers…

Biotech

Long-Read Sequencing: What It Finds in a Genome That Short Reads Miss

Short reads cover most of a genome but stumble on repeats and large rearrangements. Here is what long-read sequencing adds, with yields…