De novo variants in SRSF3 are linked to variable developmental phenotypes, including developmental delay and intellectual disability, in nine affected individuals.
The American Journal of Human Genetics
Elsevier BV · Genomics & Bioinformatics · ISSN 0002-9297, 1537-6605
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Genetic variation in pentanucleotide tandem repeats shows extreme length and motif diversity at disease-associated loci in 47,952 genomes.
Whole-genome sequencing can accurately detect somatic mutations below 1% VAF in high-coverage data, with AVITI and PacBio platforms excelling in different regions.
De novo MAP2K4 variants are linked to a neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons, affecting nine individuals with developmental delays.
Integration of functional assay data resolved 80.1% of BRCA1 VUSs and 69.5% of BRCA2 VUSs, classifying 6,517 missense variants in a large-scale study.
Loss of the human BRIP1 C terminus does not cause Fanconi anemia, even with homozygous truncating variants.
Two noncoding MECP2 variants linked to male-biased autism phenotypes, with one reducing gene expression by approximately 30%.
Hypomorphic IDUA genotypes are linked to late-onset retinitis pigmentosa without systemic MPS I features in individuals aged 46-73 years.
Higher RAPGEF1 levels are linked to increased melanoma and nevus risk by promoting RAS activation in melanocytes.
Mutation rate heterogeneity systematically biases variant effect predictors by causing them to interpret mutation rate variation as functional importance.
Rare coding CNVs and 22q11.21 dosage variations are linked to Alzheimer disease risk, with deletions increasing and duplications decreasing risk in affected individuals.
Sickle cell trait (SCT) is linked to increased risks of kidney disease, pulmonary embolism, anemia, and other multi-system health issues in African ancestry individuals.
Monoallelic loss-of-function variants in ZNF536 are linked to a neurodevelopmental disorder with autism, behavioral issues, and developmental delays in humans and mice.
Genes linked to sensory and metabolic components of age-related hearing loss are most highly expressed in hair cells and spiral ganglion neurons, respectively, in the cochlea.
Seven significant cis-by-trans epistatic effects regulating protein expression were identified in the human plasma proteome, with ABO acting as a central regulator.
A highly prevalent IRF7 haplotype increases IRF7 activity, boosting IFN-α production and enhancing antiviral defense while also exacerbating autoimmunity.
Exons contribute less to heritability as polygenicity increases, dropping from 22% in less-polygenic traits to 13% in highly polygenic traits.
Genomic newborn screening studies from the US, Belgium, and Australia involving over 10,800 newborns report a screen-positive rate of 1.6% to 3.7%, with G6PD deficiency as the most common condition.
A rare recurrent BMPR2 variant (c.1126G>A [p.Glu376Lys]) acts as a gain-of-function mutation causing neurodevelopmental phenotypes in humans and flies.
CanVar-UK provides access to over 1.1 million germline single-nucleotide variants in 116 cancer susceptibility genes to support variant interpretation.
A cohort of 81 neurodevelopmental disorder patients and controls demonstrates a scalable pipeline integrating interventional genetics with clinical diagnostics.
ALLSPICE detects 124 significant heterogeneous effects among 11,810 gene-trait pairs in UK Biobank RVASs of 359 traits.
Monoallelic variants in BRSK1 are linked to a neurodevelopmental disorder with variable phenotypes, including developmental delay, anxiety, ADHD, autism, and seizures.
Canadian clinical laboratories are advised to adopt ethical, secure, and effective genetic data sharing practices to enhance diagnostic accuracy and genomic medicine progress.
The Gabriella Miller Kids First Data Resource has provided genomic data from over 30,000 pediatric participants, enabling breakthroughs in childhood cancer and congenital anomalies research.
Mendelian disease mutations influence facial shape along the same background variation axes as common variants, revealing a shared genetic structure in humans.
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