Elisabeth Rosenthal - Profile and Journalist Details
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Elisabeth Rosenthal
Verified
Editor-in-Chief, KFF Health News
Washington
Beats
Race freedom of information public policy racial justice
Content
Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition - Nature Genetics
By Mitchell R. Vollger, Kiara C. Eldred, Elliott Swanson, Elizabeth Blue, Katherine Munson, Jessica Ogawa, Elisabeth Rosenthal Verified, Stephanie Sherman, Amy Yuen, Yong-Han H. Cheng|NatureVerifiedAbstractResolving the molecular basis of a Mendelian condition remains challenging owing to the diverse mechanisms by which genetic variants cause disease. To address this, we developed a synchronized long-read genome, methylome, epigenome and transcriptome sequencing approach, which enables accurate single-nucleotide, insertion–deletion and structural variant calling and diploid de novo genome assembly.
By Elisabeth Rosenthal Verified|Rock Hill HeraldVerifiedWhen George Lai of Portland, Oregon, took his toddler son to a pediatrician last summer for a checkup, the doctor noticed a little splinter in the child's palm. "He must have gotten it between the front door and the car," Lai later recalled, and the child wasn't complaining. The doctor grabbed a pair of forceps - aka tweezers - and pulled out the splinter in "a second," Lai said.
Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition - Nature Genetics
By Mitchell R. Vollger, Kiara C. Eldred, Elliott Swanson, Elizabeth Blue, Katherine Munson, Jessica Ogawa, Elisabeth Rosenthal Verified, Stephanie Sherman, Amy Yuen, Yong-Han H. Cheng|NatureVerifiedAbstractResolving the molecular basis of a Mendelian condition remains challenging owing to the diverse mechanisms by which genetic variants cause disease. To address this, we developed a synchronized long-read genome, methylome, epigenome and transcriptome sequencing approach, which enables accurate single-nucleotide, insertion–deletion and structural variant calling and diploid de novo genome assembly.
Company Info
KFF Health News
KFF is an independent, nonpartisan organization focused on health policy research, polling, journalism, and public health information campaigns. Founded in 1948 by Henry J. Kaiser, it became a public charity in 1991 under Dr. Drew Altman. With headquarters in San Francisco and an office in Washington, DC, KFF serves as a trusted source of health information, distinct from Kaiser Permanente. KFF operates in four main areas: policy research, public opinion polling, journalism through KFF Health News, and public information campaigns via KFF Social Impact Media. It provides valuable insights for policymakers, the media, the health care community, and the general public. Governed by a Board of Trustees and funded through an endowment and external grants, KFF emphasizes independence and transparency in its work.
Athens, Greece
+1 650-854-9400
Founded: 1991