Clinical Exome Sequencing Tests Are Frequently Incomplete: Study
Clinical Exome Sequencing Tests Are Frequently Incomplete: Study
A review of 36 individuals’ sequencing results performed by three US labs finds thousands of genes that were never fully sequenced to industry standards.
Clinical Exome Sequencing Tests Are Frequently Incomplete: Study
Clinical Exome Sequencing Tests Are Frequently Incomplete: Study

A review of 36 individuals’ sequencing results performed by three US labs finds thousands of genes that were never fully sequenced to industry standards.

A review of 36 individuals’ sequencing results performed by three US labs finds thousands of genes that were never fully sequenced to industry standards.

rare diseases
Fetal Gene Therapy Helps Mice with Spinal Muscular Atrophy
Fetal Gene Therapy Helps Mice with Spinal Muscular Atrophy
Alejandra Manjarrez | Dec 11, 2019
The animals lived longer and showed milder symptoms than untreated mice, although they didn’t survive as long as wildtype mice.
Contributors
Contributors
The Scientist Staff | Sep 1, 2019
Meet some of the people featured in the September 2019 issue of The Scientist.
Researchers Analyze Epigenetic Signatures to Diagnose Rare Diseases
Researchers Analyze Epigenetic Signatures to Diagnose Rare Diseases
Katarina Zimmer | Mar 28, 2019
A number of rare diseases show unique epigenetic patterns across the genome, a feature researchers have now exploited to build a diagnostic tool.
AI App Identifies Rare Genetic Disorders from Photos of Patients’ Faces
AI App Identifies Rare Genetic Disorders from Photos of Patients’ Faces
Catherine Offord | Jan 8, 2019
Deep-learning algorithms could help doctors narrow in on the causes of certain medical conditions, say researchers.
Award Winner
Award Winner
The Scientist Staff | Nov 1, 2018
Geneticist and profilee Hoda Zoghbi describes her work on rare diseases.
Synthetic Bacteria Help Treat Phenylketonuria in MiceSynthetic Bacteria Help Treat Phenylketonuria in Mice
Synthetic Bacteria Help Treat Phenylketonuria in Mice
Diana Kwon | Aug 17, 2018
The genetically engineered probiotic, already in clinical trials, may ease patients’ strict dietary regimes.
FDA Approves Oral Drug for Fabry Disease
FDA Approves Oral Drug for Fabry Disease
Ashley Yeager | Aug 13, 2018
The medicine increases the activity of a deficient enzyme in certain patients with the condition.
First RNAi Therapy Approved by FDA
First RNAi Therapy Approved by FDA
Kerry Grens | Aug 10, 2018
Alnylam’s patisiran interferes with the production of a mutated protein present in people with hereditary transthyretin amyloidosis.
Positive Trial Results for Experimental DMD Gene Therapy
Positive Trial Results for Experimental DMD Gene Therapy
Catherine Offord | Jun 20, 2018
Preliminary data from Sarepta Therapeutics has exceeded expectations, causing a surge in company stock prices this week.