DNA Methylation Episignatures Emerge as a Powerful New Diagnostic Layer for Rare Disease
A new review explains how DNA methylation episignatures provide functional evidence of disease mechanism in rare genetic disorders, helping resolve ...
Tag: long-read sequencing
Long-Read Sequencing Steps Into the Clinic for Spinal Muscular Atrophy Diagnosis
A new clinical study shows that third-generation long-read sequencing matches conventional tests perfectly while revealing hidden carrier risks and gene ...
Long-Read Genome Sequencing Powers a New, Deeply Characterized iPSC Resource for Lab Modeling
Researchers at the Coriell Institute have created a publicly available iPSC resource with HiFi long-read whole-genome sequencing, pharmacogenomic and HLA ...
Major Funding Push Aims to Crack the Genomic Secrets of Earth’s Most Overlooked Life Forms
A new Gordon and Betty Moore Foundation-funded collaboration led by the Earlham Institute with SAMS, CCAP, and Aalborg University aims ...
White Jade Snail Genome Assembly Reveals Conserved Architecture and Divergent Functions
A new chromosome-level genome assembly of the white jade snail reveals conserved genomic architecture relative to wild Achatina fulica, while ...
Long and Short DNA Reads Join Forces to Sharpen Forensic Mitochondrial Profiling
A pedigree-based study of 177 individuals shows that nanopore long-read sequencing and Illumina short-read sequencing each excel at different forensic ...
Long-Read RNA Sequencing Maps Sex Differences in the Rat Hippocampus at Isoform Level
Long-read direct RNA sequencing of the rat hippocampal CA1 reveals that male and estrus-phase female rats distribute RNA isoforms differently ...
Hidden DNA Knots: G-Quadruplexes Mapped Across the Complete Human Genome
Using gap-less long-read genome assemblies and 88 diverse human haplotypes, researchers have mapped G-quadruplex DNA structures across the complete human ...
New aligner brings recombination-aware mapping of long reads to pangenome graphs
Researchers have developed RecAlign, an A*-based sequence-to-graph aligner that efficiently handles recombination events and enables recombination-aware long-read mapping against chromosome-wide ...
Near-Perfect Long Reads Reveal Hidden Mosaicism Left Behind by CRISPR Gene Editing
Ultra-accurate targeted long-read sequencing of genome-edited zebrafish reveals widespread CRISPR-Cas9 mosaicism, with structural variants and off-target mutations inherited into the ...
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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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