Artificial intelligence in molecular medicine
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Towards population-scale long-read sequencing
Long-read sequencing technologies have now reached a level of accuracy and yield that
allows their application to variant detection at a scale of tens to thousands of samples …
allows their application to variant detection at a scale of tens to thousands of samples …
Towards generalist biomedical AI
Background Medicine is inherently multimodal, requiring the simultaneous interpretation
and integration of insights between many data modalities spanning text, imaging, genomics …
and integration of insights between many data modalities spanning text, imaging, genomics …
A draft human pangenome reference
Abstract Here the Human Pangenome Reference Consortium presents a first draft of the
human pangenome reference. The pangenome contains 47 phased, diploid assemblies …
human pangenome reference. The pangenome contains 47 phased, diploid assemblies …
Haplotype-aware variant calling with PEPPER-Margin-DeepVariant enables high accuracy in nanopore long-reads
Long-read sequencing has the potential to transform variant detection by reaching currently
difficult-to-map regions and routinely linking together adjacent variations to enable read …
difficult-to-map regions and routinely linking together adjacent variations to enable read …
Semi-automated assembly of high-quality diploid human reference genomes
The current human reference genome, GRCh38, represents over 20 years of effort to
generate a high-quality assembly, which has benefitted society,. However, it still has many …
generate a high-quality assembly, which has benefitted society,. However, it still has many …
DeepConsensus improves the accuracy of sequences with a gap-aware sequence transformer
Circular consensus sequencing with Pacific Biosciences (PacBio) technology generates
long (10–25 kilobases), accurate 'HiFi'reads by combining serial observations of a DNA …
long (10–25 kilobases), accurate 'HiFi'reads by combining serial observations of a DNA …
Variant calling and benchmarking in an era of complete human genome sequences
Genetic variant calling from DNA sequencing has enabled understanding of germline
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation
Long-read sequencing technologies substantially overcome the limitations of short-reads
but have not been considered as a feasible replacement for population-scale projects, being …
but have not been considered as a feasible replacement for population-scale projects, being …
Comprehensive genome analysis and variant detection at scale using DRAGEN
Research and medical genomics require comprehensive, scalable methods for the
discovery of novel disease targets, evolutionary drivers and genetic markers with clinical …
discovery of novel disease targets, evolutionary drivers and genetic markers with clinical …