Landmark-Based Method Quantifies Chromosomal Structural Variants
A new geo-metric method uses conserved DNA sequences as landmarks to quantify chromosomal structural variants across species.
Tag: variants
Premarital Screening Uncovers Alpha and Beta Thalassemia Variants in Eastern Iran
A premarital screening of 7,440 individuals in Eastern Iran identified prevalent alpha- and beta-thalassemia gene variants among candidates with persistent ...
Zebrafish Study Links Somatic TARDBP Variants to FTLD-TDP-C
A study in Acta Neuropathologica Communications demonstrates that somatic TARDBP variants linked to FTLD-TDP-C disrupt morphology and increase microglia in ...
DDX41 Gene Variants Linked to Severe Retinal Dystrophy
A new study in Genome Medicine identifies biallelic DDX41 variants as a cause of severe retinal dystrophy, expanding the known ...
BICEP Extends Rare Variant Prioritisation to Indels and Copy Number Variants
Researchers have expanded the BICEP Bayesian inference model to prioritise indels and copy number variants in pedigree-based genomic analyses.
GJB2 variants found in 7% of African non-syndromic hearing loss cases in pooled review
A systematic review and meta-analysis of 17 African studies estimates GJB2 pathogenic variants in 7% of non-syndromic hearing loss cases, ...
First medulloblastoma case reported in O’Donnell–Luria–Rodan syndrome
A case series of three children with KMT2E variants reports the first documented large-cell/anaplastic medulloblastoma in O'Donnell–Luria–Rodan syndrome, expanding the ...
Faulty vesicle recycling gene VPS25 linked to lethal neonatal encephalopathy
Biallelic hypomorphic variants in the ESCRT-II component VPS25 cause a lethal neonatal encephalopathy by disrupting multivesicular body processing and the ...
Genetic tests identify three PAX6-linked aniridia variants in Chinese families
A three-family study combined arrays, exome sequencing, karyotyping, quantitative PCR and Sanger sequencing to identify two large deletions and one ...
Small case-control study finds possible CCR2–sarcoidosis association
A targeted-sequencing case-control study of 50 people found that one CCR2 variant was more frequent in the sarcoidosis group, suggesting ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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