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  2. 3. velj

    Dawn of a new era for targeted sequencing ( ) : no enrichment prep, focus on enriching information during the run, bioinformatically. Only possible with

  3. 14. sij

    MegaBOLT supports the analysis of Whole Genome Sequencing (WGS) and Whole Exome and is 20 times faster than the traditional GATK approach.

  4. 29. pro 2019.

    New paper out ! PaCBAM performs fast and scalable processing of and data, computing coverage and allele-specific pileup statistics at genomic region and single-base resolution levels. Try it!!!

  5. *FREE* Feature! Critical trio benefits in-time decision making in --> 1/2 pts. reached diagnosis at median of 6 days, with alteration of mgmt in 81%. Wu et al: Editorial /Williams

  6. sequencing in trios reveals only a small contribution towards overall risk from protein-coding de novo mutations

  7. sequencing in children with spectrum disorder () and/or attention-deficit/hyperactivity disorder () shows increased rare protein-truncating variant burden and identifies MAP1A as a new significant risk gene

  8. De novo mutations identified by sequencing implicate rare missense variants in SLC6A1 in

  9. 12. stu 2019.

    Multidisciplinary collaboration among , Molecular Pathology and Genetics unit to evaluate sequencing for lung cancer treatment reccomendation

  10. 12. stu 2019.

    Francisco Ortuño on our pilot project for treatment decision based on sequencing in collaboration with

  11. sequencing allows diagnosis new diseases as well as known conditions. mosaic ectodermal dysplasia for instance.

  12. 8. sij
  13. 21. sij

    Analyse your Whole Sequencing kit fully automated on the Seamless NGS Platform!

  14. 5. pro 2019.

    Drawing a blank during exome CNV analysis? Complete the picture with exome del/dup detection.

  15. 15. sij

    New guidelines: What is the role of sequencing in ? Read the quick open-access summary here

  16. 6. sij

    testing labs using sequencing may be missing results as much as 1 in 4 cases! not good.....

  17. 10. sij

    Whole sequencing is a new fast-track which can scan around 20,000 human genes in just 27 hours. 🧬 The technique has now been rolled out across NHS England which could result in quicker diagnosis of .

  18. 27. stu 2019.

    Ngo et al Diagnostic Ceiling for Sequencing in Cerebellar . Despite advancements ~50% is current upper limit of WES diagnosis. Better genome-wide methods needed to improve this.

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