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1. www.nejm.org › doi › fullHuman Molecular Genetics and Genomics — Important Advances and...

   www.nejm.org › doi › full

   2 Ιαν 2021 · The focus of genomics research has recently moved beyond analyzing DNA variation to studying patterns of gene expression in individual cells, a step that has been driven by new methods for...

2. www.nature.com › articles › s41576/021/00409-wA new era in functional genomics screens - Nature

   www.nature.com › articles › s41576/021/00409-w

   20 Σεπ 2021 · In this Review, we discuss current functional genomics technologies and applications, focusing on recent advances in CRISPR-based screening modalities that are currently driving innovation...

3. www.nature.com › articles › s41431/023/01439-0Genomic testing for rare disease diagnosis—where are we now ... -...

   www.nature.com › articles › s41431/023/01439-0

   1 Αυγ 2023 · Rapid genomic testing for critically ill children in particular has shown to be transformative through the avoidance of unnecessary investigations, interventions and surgical procedures and ...

4. www.nature.com › articles › s41431/022/01259-8The implementation of large-scale genomic screening or ... -...

   www.nature.com › articles › s41431/022/01259-8

   14 Δεκ 2022 · Fourteen articles focused on the use of genomics in screening, three focused on diagnostic genomic testing, and thirteen addressed both.

5. med.stanford.edu › news › all-newsFastest DNA sequencing technique helps undiagnosed patients find...

   med.stanford.edu › news › all-news

   • Αποθηκευμένο αντίγραφο

   12 Ιαν 2022 · A new ultra-rapid genome sequencing approach developed by Stanford Medicine scientists and their collaborators was used to diagnose rare genetic diseases in an average of eight hours — a feat that’s nearly unheard of in standard clinical care.

6. www.nytimes.com › 2023/05/10 › scienceScientists Unveil a More Diverse Human Genome

   www.nytimes.com › 2023/05/10 › science

   10 Μαΐ 2023 · Powered by the latest in DNA sequencing technology, the pangenome collates all 47 unique genomes into a single resource, providing the most detailed picture yet of the code that powers our...

7. pubmed.ncbi.nlm.nih.gov › 37508427Next-Generation Sequencing Technology: Current Trends and ... -...

   pubmed.ncbi.nlm.nih.gov › 37508427

   13 Ιουλ 2023 · The advent of next-generation sequencing (NGS) has brought about a paradigm shift in genomics research, offering unparalleled capabilities for analyzing DNA and RNA molecules in a high-throughput and cost-effective manner.