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Software assembles complete genome sequences on-demand

NIH researchers have developed and released a software tool to assemble complete genome sequences from a variety of species.

Elissa wolfsonAdam phillippyNational institutes of healthNational human genome research instituteScience advisory boardNature biotechnologyHuman genome research instituteGenome sequencingGenome sequencesComplete genome sequenceApless genome sequenceEnome sequence assemblyEnome sequencing softwareHuman genome sequenceElomere to telomereUman genomic diversity

New approach puts genotype first

Researchers have assessed 13 studies that took a genotype-first approach to patient care, in contrast to the more typical phenotype-first approach.

United statesElissa wolfsonLeslie bieseckerNational institute of allergyPrecision health researchScience advisory boardAmerican journalHuman geneticsNational human genome research instituteReverse phenotyping corePrecision healthNational instituteInfectious diseaseCentralized sequencing protocolReverse phenotyping core genomic dataGenomic medicine

Researchers generate the first complete, gapless sequence of a human genome

Completion is critical for understanding the full spectrum of human genomic variation and for understanding the genetic contributions to certain diseases.

Johns hopkins universityUnited statesNational institutes of healthChevy chaseEric greenAdam phillippyEvan eichlerKaren migaUniversity of californiaDivision of intramural researchUs department of healthHuman servicesUniversity of connecticutNational institute of standardsUniversity of washingtonDepartment of health

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