Population study links PALB2 variants to increased cancer risk and mortality in two large cohorts
Large study finds PALB2 gene variant linked to higher cancer risk and mortality
A case-control study of over 636,000 adults from UK Biobank and Geisinger MyCode cohorts found heterozygous PALB2 pathogenic/likely pathogen…
A common gene variant called PALB2 is linked to higher odds of breast, pancreatic, and other cancers plus reduced survival compared to peopl…
Multivariate GWAS identifies 248 loci for internalizing disorder and 591 for major depressive disorder in millions of participants
Millions of people studied to find genetic links to anxiety and depression
This multivariate and multi-ancestry genome-wide association study analyzed millions of ancestrally diverse participants to investigate the …
A massive study of millions of people reveals that anxiety, depression, and PTSD share a common genetic foundation while also having unique …
Russian FSHD registry shows moderate inverse correlation between D4Z4 repeats and clinical severity
What does FSHD look like in Russia? A registry study maps the disease
An observational cohort study of 470 patients in the Russian FSHD Patient Registry found genetic confirmation in 76% of participants.
Nearly half of Russian FSHD patients first notice shoulder blade weakness, while others start with facial symptoms or a classic childhood fo…
Pilot nationwide carrier screening in Singapore identifies 0.9% of couples at increased risk
Singapore pilot program screens couples for genetic disease risk, finds 0.9% at higher risk
A pilot implementation study of a nationwide reproductive carrier screening program in Singapore, using a 112-gene panel, found 0.9% of 456 …
Singapore's new genetic screening program found 0.9% of couples carry risks for recessive diseases, sparking interest and support for expand…
DNM1-related disorder shows phenotypic homogeneity and variant clustering in 95 individuals
Study maps genetic patterns in rare DNM1-related epilepsy disorder
This cohort study evaluated the genotypic and phenotypic landscape of DNM1-related disorder in 95 individuals.
Specific gene errors cause uniform symptoms in rare epilepsy, linking distinct signs to genetic spots and offering clearer paths for future …
TBC1D7 CCG expansions identified as new genetic cause in oculopharyngodistal myopathy families
What causes a rare muscle disease? Scientists find a new genetic clue
A cohort study of three unrelated families with oculopharyngodistal myopathy identified heterozygous CCG expansions (87-134 repeats) in TBC1…
A rare muscle disease affecting eyes and limbs has a new genetic cause linked to a specific DNA repeat found in three families.
Database analysis finds ancestry-based disparities in variant classification for monogenic diabetes genes
Do genetic databases leave some people with more uncertainty about diabetes risk?
An observational cohort analysis of 14,691 variants from gnomAD v4.0 for 17 monogenic diabetes genes found only 29.7% had any ClinVar classi…
A new look at genetic databases shows that for most non-European groups, uncertain diabetes risk results are significantly lower than for Eu…
Phenotype database PAVS shows utility for gene prioritization in rare disease cases
New database helps prioritize genes for rare disease diagnosis in Saudi Arabian patients
An observational database evaluation study assessed PAVS, a curated database integrating phenotype-associated variants from Saudi Arabian ra…
A new database called PAVS helps doctors prioritize genes for rare diseases in Saudi patients by combining genetic data with detailed sympto…
Cohort study in Portuguese families finds co-segregation of serious mental illnesses and rare CHD2 variant
Do serious mental illnesses share family roots? A rare gene clue emerges
An observational cohort study of 173 multiplex families from the Portuguese Island Collection found co-segregation of psychotic and mood dis…
A rare gene mutation linked to autism and schizophrenia may also explain why psychotic and mood disorders often appear together in families.
Survey of U.S. adults links religious and political factors to mRNA vaccine attitudes
Why do religious and political beliefs shape how people feel about mRNA vaccines?
An observational survey of 4939 U.S. adults from various religious and non-religious groups found Evangelical Protestants showed less suppor…
A new survey reveals that religious communities, political views, and trust in healthcare are powerful forces shaping how Americans feel abo…
Validation study of an open-source LLM-enabled genetic testing recommendation pipeline in patients with rare genetic aortopathies
Can an AI tool help doctors spot rare genetic heart risks faster and more accurately?
This validation study evaluated an open-source large language model (LLM) pipeline using retrieval augmented generation (RAG) in 499 patient…
A new AI tool helps doctors spot rare genetic heart risks faster by reading medical notes with 83% accuracy, flagging patients who need gene…
Multi-omics integration identifies candidate genes and cell-type-specific effects in glioma
Could genetic clues finally pinpoint the right cells to target in deadly brain tumors?
This computational analysis integrated GWAS, bulk tissue, and single-cell multi-omics data to investigate glioma.
A new analysis of genetic maps shows deadly brain tumors drive growth by increasing communication between support cells and nerve cells.