whole exome sequencing Archives - Baylor College of Medicine Blog Network

Tracking down microRNA candidates that can contribute to disease

November 6, 2018 ADmiRE, Cancer, developmental disease, gnomAD, heart disease, microRNA, The Cancer Genome Atlas, whole exome sequencing

What started as Ninad Oak’s side project turned out into something much larger, his doctorate thesis. “The project started as my qualifying exam that I

From The Labs

Of mice, men and proteasomes; OTUD6B variant causes intellectual and physical disability

May 3, 2017 developmental disorders, Human genetics, intellectual disabilities, Mouse models, OTUD6B, physical disabilities, proteasome, whole exome sequencing

One of Dr. Magdalena Walkiewicz’s patients had not received a genetic diagnosis for his condition that included a number of intellectual and physical disabilities. After

From The Labs

Mutations in CWC27 result in spectrum of conditions

April 13, 2017 blindness, craniofacial and skeletal problems, CWC27, Genetics, Retinitis pigmentosa, spliceosome, whole exome sequencing

Mingchu Xu searches for genes linked to retinitis pigmentosa, a condition of the retina characterized by progressive development of night blindness and tunnel vision, sometimes from

From The Labs

Collaboration matters when looking for answers to undiagnosed diseases

February 10, 2017 data sharing, de novo mutation, developmental delay, Human genetics, NACC1, Rare Diseases, undiagnosed diseases, whole exome sequencing

It used to be that identifying genes involved in a particular disease was like finding a needle in a haystack. Nowadays, scientists still have to

From The Labs

Discovery of the new hormone asprosin could have potential implications in treatment of diabetes

June 1, 2016 asprosin, Diabetes, endocrinology, neonatal progeroid syndrome, whole exome sequencing

By Dipali Pathak When Dr. Atul Chopra began studying a rare genetic condition called neonatal progeroid syndrome (NPS) he did not suspect that his discoveries