Autor: Clinical genetics

Research led by the University of Cambridge Loke Center for Trophoblast Research has shown that a genome-editing technique can be used to alter a single gene in human embryonic cells, enabling the study of very early human development in unparalleled d…

A genetic difference carried by nearly one in three people may increase the risk of severe COVID-19 and lung fibrosis by disrupting the function of a previously unknown protein, according to a new study published in Nature Communications.

A genetic difference carried by nearly one in three people may increase the risk of severe COVID-19 and lung fibrosis by disrupting the function of a previously unknown protein, according to a new study published in Nature Communications.

The availability of genetic testing for amyotrophic lateral sclerosis (ALS) for people with a family member diagnosed with the disease is expected to greatly increase the number of clinic visits to specialized ALS centers over the next decade, accordin…

The availability of genetic testing for amyotrophic lateral sclerosis (ALS) for people with a family member diagnosed with the disease is expected to greatly increase the number of clinic visits to specialized ALS centers over the next decade, accordin…

A newly developed open-source tool designed for rigorous reanalysis of genomic data is highly effective at detecting new rare disease diagnoses. The tool’s ability to frequently and automatically reexamine stored DNA data will ensure more timely answer…

A newly developed open-source tool designed for rigorous reanalysis of genomic data is highly effective at detecting new rare disease diagnoses. The tool’s ability to frequently and automatically reexamine stored DNA data will ensure more timely answer…

Systemic lupus erythematosus (SLE), the most common form of lupus, is an autoimmune disorder that occurs more frequently in women. Having multiple X chromosomes has been associated with an increased risk of developing lupus; however, the reason for thi…

Systemic lupus erythematosus (SLE), the most common form of lupus, is an autoimmune disorder that occurs more frequently in women. Having multiple X chromosomes has been associated with an increased risk of developing lupus; however, the reason for thi…

A risk model that combines a mammographic artificial intelligence (AI) risk score with polygenic and clinical risk scores more accurately identifies women at high risk of developing breast cancer than clinical risk scores used alone, finds a new Kaiser…