Photo 56463226 © Aviahuismanphotography | Dreamstime.com
Genomics

For rare pediatric diseases, genome sequencing can increase diagnostic yield

To take the test online go HERE. For more information, visit the Continuing Education tab. LEARNING OBJECTIVES Upon completion of this article, the reader will be able to: 1. ...
Photo 33291929 © Hongqi Zhang (aka Michael Zhang) | Dreamstime.com
Illustration 1029221 © Tomislav Forgo | Dreamstime.com
Photo 177655691 © Svetlana Zhukova | Dreamstime.com
Dreamstime Xxl 177655691
Courtesy of NHGRI, NIH
The human Y chromosome is the final human chromosome to be fully sequenced. The new sequence, which fills in gaps across more than 50% of the Y chromosome’s length, uncovers important genomic features with implications for fertility, such as factors in sperm production. NHGRI.
Genomics

Researchers assemble complete sequence of a human Y chromosome

Aug. 24, 2023
New sequence reveals genomic factors in fertility, including sperm production.
Photo 280785225 © A. G. M. | Dreamstime.com
Dreamstime Xxl 280785225
Photo 76892879 © Artem Egorov | Dreamstime.com
Dreamstime Xxl 76892879
Genomics

CHOP researchers use “deep sequencing” to identify several previously undescribed genetic variants in vascular anomalies

June 13, 2023
The study captured genetic variants at extremely low levels, and dozens of patients began new therapies as a result of the findings.
Photo 64173383 © Mrchan | Dreamstime.com
Dreamstime Xxl 64173383
Genomics

CDC webinar will focus on gene therapy in thalassemia

June 6, 2023
Next installment of CDC’s webinar series.
Photo 43891352 © David Carillet | Dreamstime.com
Dreamstime Xxl 43891352
Genomics

UCLA study shows accuracy of genetically based disease predictions varies from individual-to-individual

May 24, 2023
Study highlights the need to move from populations to individuals in genomic medicine.
Photo 100104003 © Vchalup | Dreamstime.com
Dreamstime Xxl 100104003
Genomics

Improving gene therapy with tiny bubbles

May 5, 2023
With Moderna Inc. global fellowship award, CWRU School of Medicine researchers hope to develop process that overcomes challenge of targeting diseased cells.
Photo 76894183 / 3d © Artem Egorov | Dreamstime.com
Dreamstime Xxl 76894183
Genomics

Yale-led team creates comprehensive resource for impact of genomic variants

April 18, 2023
These advances will allow researchers and clinicians to better interpret potential disease-causing variants in an individual, connecting them to regulatory sites, nearby genes...
By Naypong Studio on Adobe Stock
Adobe Stock 160886660
Genomics

Genetic causes of three previously unexplained rare diseases identified

March 17, 2023
A computational approach developed by Mount Sinai researchers helps identify previously unknown genetic causes of primary lymphedema, thoracic aortic aneurysm disease, and congenital...
Photo 125846955 © Mykola Sosiukin | Dreamstime.com
Dreamstime Xxl 125846955
Genomics

Researchers identify novel genes that may increase risk for schizophrenia

March 15, 2023
Largest known study of its kind also shows risk is shared across ethnicities.
Photo 121375921 © Supawat Kaydeesud | Dreamstime.com
Dreamstime Xxl 121375921
Genomics

NIH software assembles complete genome sequences on-demand

Feb. 17, 2023
Software opens the door for a greater number of complete genome sequences.