Healthy Life: Ancient viruses in our DNA may hold clues to what makes us human | Healthy Life
Fragments of ancient viral DNA once dismissed as “junk” may play a role in controlling our genes, according…
Researchers develop tool to improve genetic predictions
Staff at Pusan National University CRISPR-based gene editing holds great promise, but off-target effects remain a major concern,…
RareInsight simplifies the communication of genetic results for rare disease patients
RareInsight is an interactive dashboard designed to support the dissemination and interpretation of genetic test results for clinicians,…
The role of untranslated region variants in Mendelian disease: a review
100,000 Genomes Project Pilot Investigators, Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, et al. 100,000…
RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network
Cheung R, Insigne KD, Yao D, Burghard CP, Wang J, Hsiao Y-HE, et al. A multiplexed assay for…
Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement
We here describe the clinical features of a cohort of 10 patients with germline SH2B3 variants. In our…
A novel heterozygous pathogenic variant in HEY2 led to a familial form of non-syndromic Tetralogy of Fallot
van der Linde D, Konings EEM, Slager MA, Witsenburg M, Helbing WA, Takkenberg JJM, et al. Birth prevalence…
An application of the MR-Horse method to reduce selection bias in genome-wide association studies of disease progression
Simulations In order to test this novel application of the method we first simulated GWAS of disease incidence…
Penetrance and pleiotropy in ATXN2-related amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a condition that in recent years has slowly but surely shifted its position…
MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients
Carrier L. Targeting the population for gene therapy with MYBPC3. J Mol Cell Cardiol. 2021;150:101–8. Article CAS PubMed …