PaRDal links DNA and RNA sequencing to resolve cancer variant uncertainty
A study of 204 people showed that an integrated DNA-and-RNA sequencing workflow supported pathogenicity for 12 candidate splicing variants while ...
Tag: allele-specific expression
Wild Tomatoes Still Hold the Flavor We Bred Away, and Scientists Have Mapped Where It Hides
A Boyce Thompson Institute study maps the genetic switches that distinguish cultivated tomatoes from wild relatives, pinpointing targets for breeding ...
Cell-by-cell maps reveal hidden complexity of genomic imprinting in maize
A new study combining spatial transcriptomics and single-nucleus RNA sequencing shows that genomic imprinting in maize endosperm is far more ...
Single Genetic Change May Strike Twice in Rare Anemia Case, Long-Read Study Suggests
Long-read multi-omics sequencing of a severe GPI deficiency case has uncovered a candidate dual-effect variant that may simultaneously destabilize an ...
Deep Learning Tool Sharpens SNP Detection in Nanopore Transcriptome Sequencing
NanoTS, a new deep learning tool published in Nature Methods, enables accurate SNP detection and genotype calling from nanopore long-read ...
Wild Tomatoes Reveal Hidden Genetic Switches Behind Fruit Flavor and Nutrition
A genome-wide allele-specific expression study maps cis- and trans-regulatory divergence between cultivated and wild tomatoes, revealing tissue- and stage-specific controls ...
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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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