Rare DNAJB13 Gene Mutation Linked to Unexplained Sperm Motility Loss in Men
A rare missense mutation in the axonemal co-chaperone gene DNAJB13 was detected exclusively among Chinese men with idiopathic asthenozoospermia, implicating ...
Tag: Sanger sequencing
Tailed PCR Primer Extends Tiny miRNA Amplicon for Clearer Sanger Sequencing
Researchers in Vietnam developed and validated a thermodynamically optimized 5-prime-tailed PCR primer that extends a 58-base-pair miR-16-5p amplicon to 115 ...
Homozygous GUCY2D Variant Linked to Blindness in Iranian Family
An Iranian study reports an independent observation of a homozygous GUCY2D variant in a patient with Leber congenital amaurosis, supported ...
Novel ALPL Splice-Site Mutation Identified as Cause of Severe Perinatal Hypophosphatasia
Whole exome sequencing of an aborted fetus from a consanguineous Iranian family identified a novel homozygous ALPL splice-site variant, c.863–2 ...
New MYD88/CD79B Test Boosts Detection of Eye and Brain Lymphomas
A new low-input multiplex MYD88/CD79B PCR and sequencing workflow improved sensitivity, specificity and diagnostic accuracy over standard MYD88 L265P testing ...
Baseline HIV Resistance Testing Finds High Susceptibility to First-Line Therapy
A study of 278 treatment-naive people with HIV-1 found high viral susceptibility to recommended first-line drugs and clinically relevant NRTI ...
INHA Gene Variant Linked to Litter Size in Kreishi Ewes
A missense variant in the INHA gene was significantly associated with twin-bearing in 100 Kreishi ewes, with computational predictions suggesting ...
Genomic and morphological data reveal three new New Guinea stream beetle species
Genome-wide sequencing, mitochondrial DNA and morphology identified three new Philaccolilus stream beetles and elevated a former subspecies to species status.
Novel CTNNB1 missense variant identified in child with spastic diplegia and visual defects
A 7-year-old Iranian boy with a previously unreported CTNNB1 missense variant showed developmental delay, spastic diplegia, microcephaly, behavioral problems and ...
New Open-Source Pipeline Turns Thousands of Sanger Sequences into Named Species in Minutes
A new open-source bioinformatic pipeline called MycorrhizaTracer automates the processing and taxonomic classification of thousands of Sanger DNA sequences, resolving ...
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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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