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Whole genome sequencing in clinical practice
FO Bagger, L Borgwardt, AS Jespersen… - BMC medical …, 2024 - Springer
Whole genome sequencing (WGS) is becoming the preferred method for molecular genetic
diagnosis of rare and unknown diseases and for identification of actionable cancer drivers …
diagnosis of rare and unknown diseases and for identification of actionable cancer drivers …
Hyenadna: Long-range genomic sequence modeling at single nucleotide resolution
Genomic (DNA) sequences encode an enormous amount of information for gene regulation
and protein synthesis. Similar to natural language models, researchers have proposed …
and protein synthesis. Similar to natural language models, researchers have proposed …
Nucleotide Transformer: building and evaluating robust foundation models for human genomics
The prediction of molecular phenotypes from DNA sequences remains a longstanding
challenge in genomics, often driven by limited annotated data and the inability to transfer …
challenge in genomics, often driven by limited annotated data and the inability to transfer …
Transcriptional and post-transcriptional controls for tuning gene expression in plants
Plant biotechnologists seek to modify plants through genetic reprogramming, but our ability
to precisely control gene expression in plants is still limited. Here, we review transcription …
to precisely control gene expression in plants is still limited. Here, we review transcription …
Caduceus: Bi-directional equivariant long-range dna sequence modeling
Large-scale sequence modeling has sparked rapid advances that now extend into biology
and genomics. However, modeling genomic sequences introduces challenges such as the …
and genomics. However, modeling genomic sequences introduces challenges such as the …
Self-supervised learning on millions of primary RNA sequences from 72 vertebrates improves sequence-based RNA splicing prediction
Abstract Language models pretrained by self-supervised learning (SSL) have been widely
utilized to study protein sequences, while few models were developed for genomic …
utilized to study protein sequences, while few models were developed for genomic …
A foundational large language model for edible plant genomes
Significant progress has been made in the field of plant genomics, as demonstrated by the
increased use of high-throughput methodologies that enable the characterization of multiple …
increased use of high-throughput methodologies that enable the characterization of multiple …
A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability
M Vinci, S Treccarichi, R Galati Rando, A Musumeci… - Scientific Reports, 2024 - nature.com
E3 ubiquitin protein ligase encoded by ARIH2 gene catalyses the ubiquitination of target
proteins and plays a crucial role in posttranslational modifications across various cellular …
proteins and plays a crucial role in posttranslational modifications across various cellular …
Self-supervised learning on millions of pre-mRNA sequences improves sequence-based RNA splicing prediction
ABSTRACT RNA splicing is an important post-transcriptional process of gene expression in
eukaryotic organisms. Here, we developed a novel language model, SpliceBERT, pre …
eukaryotic organisms. Here, we developed a novel language model, SpliceBERT, pre …
Unraveling the chicken T cell repertoire with enhanced genome annotation
SP Früh, MA Früh, BB Kaufer, TW Göbel - Frontiers in Immunology, 2024 - frontiersin.org
T cell receptor (TCR) repertoire sequencing has emerged as a powerful tool for
understanding the diversity and functionality of T cells within the host immune system. Yet …
understanding the diversity and functionality of T cells within the host immune system. Yet …