Novel CNKSR2 Splice Variant Shown to Skip Exon 16 in Boy with Epileptic Encephalopathy
A novel de novo CNKSR2 intronic variant was shown by minigene assays to cause exon 16 skipping, supporting its reclassification ...
Tag: whole exome sequencing
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 ...
Rare WT1 Gene Variant Drives Infant Kidney Failure in Unusual Case Report
A newly published case report describes a male infant with steroid-resistant nephrotic syndrome, cryptorchidism and kidney failure linked to an ...
Novel CFAP65 Gene Mutation Linked to Sperm Flagella Defects in Pakistani Family
A novel homozygous frameshift mutation in CFAP65 was identified in two infertile brothers from a consanguineous Pakistani family with severe ...
Colorectal cancer peritoneal metastases often arise early and polyclonally, sequencing study finds
Sequencing of 11 colorectal cancer patients shows peritoneal metastases often arise early, polyclonally, and through metastasis-to-metastasis seeding.
New Open-Source Pipeline Speeds Up Whole Exome Sequencing Analysis
An open-source pipeline called WEAP automates whole-exome sequencing analysis from raw reads to annotated variants, running key steps up to ...
Novel TBX4 Variant Linked to Fatal Neonatal Lung Failure in Two Siblings
Two siblings with fatal neonatal respiratory failure carried a novel heterozygous TBX4 variant inherited from their unaffected father, a case ...
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 ...
Novel PEX26 Variant Linked to Isolated Hearing Loss in Iranian Man
A novel homozygous PEX26 variant was identified in an Iranian man with bilateral sensorineural hearing loss and no other clinical ...
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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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