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Did you know that one in 10 Americans have a rare disease and it can take five or more years, on average, for a person with a rare disease to get an accurate diagnosis? That’s more...
A collaborative study used whole-genome sequencing to examine the genetic makeup of 110 children from Aosta Valley (Valle d'Aosta) with neurodevelopmental disorders and their paren...
A groundbreaking advancement in the diagnosis of rare genetic disorders has emerged from the collaborative efforts of researchers at Radboud University Medical Center and Maastrich...
In an unprecedented stride toward deciphering the intricate web of human health, a comprehensive study combining whole genome sequencing and plasma metabolomics has unveiled geneti...
[Institut Pasteur de Dakar] First 40 human whole genomes sequenced using Illumina and Oxford Nanopore Technologies platforms Institut Pasteur de Dakar launches clinical laboratory...
RNA sequencing enabled comprehensive detection of clinically relevant gene fusions in acute leukemia, including rare rearrangements that conventional diagnostic methods failed to i...
RNA sequencing joins genomic, proteomic, and clinical data in the expanded NIH All of Us database, creating an unprecedented resource for precision medicine research...
D&D‑seq uses a base editor–nanobody fusion to record DNA–protein contacts at single‑cell resolution. The method maps transcription factor and chromatin-remodeling proteins. The...
As genome editing therapies move through clinical trials to regulatory approval, scientists continue the quest for the holy grail of large-scale DNA editing.. The post The Quest fo...
Colossal Biosciences will be biobanking tissues from all of them as well.
MERCURIUSâ„¢ 1536 DRUG-seq brings RNA sequencing to large-scale compound screening, enabling efficient gene expression profiling... The post Alithea Genomics launches early access...
In a groundbreaking study poised to revolutionize tuberculosis (TB) diagnostics and treatment protocols, researchers in Eswatini have leveraged the power of targeted next-generatio...
A new RNA sequencing workflow using nanopore technology improves full-length lncRNA isoform discovery, revealing many previously undetected transcripts missed by conventional short...
A groundbreaking analysis of 173,303 exomes and genomes from the Pakistan Genome Resource (PGR) has unveiled compelling insights into the genetic architecture of human diseases and...
Ahead of ASCO 2026, Illumina unveiled an early-access MRD research kit using whole-genome sequencing and DRAGEN analysis, enabling highly sensitive cancer monitoring workflows on N...
A newly developed open-source tool designed for rigorous reanalysis of genomic data is highly effective at detecting new rare disease diagnoses. The tool's ability to frequently an...
A new long-read DNA test improves rare disease diagnosis, replaces multiple existing tests, and could become the preferred global standard for genetic diagnostics. A new DNA test i...
RNA sequencing combined with high-throughput functional profiling enabled researchers to build complete riboswitch models and uncover coordinated structural changes involved in gen...
STGBench generates realistic paired DNA and RNA sequencing datasets with known genetic alterations, enabling accurate benchmarking of spatial genomics and transcriptomics analysis....
by Dominik Witczak, Krzysztof Sychla, Julia Wysocka, Artur Laskowski, Wojciech Frohmberg, Marta Glowacka, Alicja Dzik, Piotr Lukasiak, Jacek Blazewicz, Aleksandra Swiercz Genetic...
New research from large population studies provides invaluable evidence on genome screening of newborn babies to reduce risks from overdiagnosis. The authors conclude that further...
RNA sequencing combined with nanopore technology and machine learning may streamline GMP quality control testing for mRNA therapeutics within a single workflow...
В прошлой части я рассказывал о файлах и их форматах, которые я получил после полногеномного секвенирования.В этой статье поговорим о трактовке результатов секвенирования с помощью...
by Noam Teyssier, Alexander Dobin Modern genomics produces billions of sequencing records per run, which are typically stored as gzip-compressed FASTQ files. While this format is...
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