Genome Sequencing News

Study builds roadmap for collecting, sequencing genetic dataAug 22, 2019
The National Institutes of Health has conducted a four-year study to harmonize and standardize clinical genetic reporting. 
p53 mutations in cancer patients shed light on gene’s functionJul 30, 2019
Researchers at Baylor College of Medicine have conducted a  study of TP53 mutations to better understand the processes leading to the inactivation of this important gene. 
A treasure map to understanding epigenetic causes of diseaseJun 3, 2019
Researchers have determined a unique fraction of the genome that scientists should focus on. Their report, which provides a “treasure map” to accelerate research in epigenetics and human disease, was published today in Genome Biology.
Grant funds mucosal infection research at BaylorApr 18, 2019
A grant will fund Baylor research to study mucosal infection (bacteria, viruses and parasites) through the use of genomics and organoid model systems – cell-derived, in vitro 3D organ models that enable the study of biological processes.
Unveiling disease-causing genetic changes in chromosome 17Mar 1, 2019
A study has opened a window into the complexity of the genetic changes in a small region of chromosome 17 that lead to two rare conditions.
Baboon genome sequence reveals evolutionary diversificationJan 30, 2019
In a new study published in Science Advances, an international multi-institutional research team, led by the Human Genome Sequencing Center, reports novel results describing the genome sequences and evolutionary history of six Papio baboon species.
PreSeek can complement genetic disease prenatal screeningJan 28, 2019
PreSeek can provide valuable molecular information for the detection of a wide spectrum of dominant monogenic diseases, according to an initial study.
Researchers analyze impact of newborn genomic screeningJan 3, 2019
As genomic sequencing becomes increasingly popular and accessible, an effort called the BabySeq Project aims to explore the medical, behavioral, economic and ethical impacts of adding genomic sequencing to the roster of screenings for newborns.
FDA recognizes database of clinically relevant genetic variantsDec 5, 2018
The database created by the Clinical Genome Resource program (ClinGen) has been recognized by the U.S. Food and Drug Administration.
Grant funds somatic cell genome editing mouse models studyOct 9, 2018
As part of a larger effort of the National Institutes of Health’s Somatic Cell Genome Editing program, researchers received a U42 grant to create mouse model resources for testing the therapeutic potential of novel genome editing approaches.