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Landmark study details sequencing of 64 full human genomes to better capture genetic diversity


Credit: NIH
Researchers at the University of Maryland School of Medicine (UMSOM) co-authored a study, published today in the journal
Science, that details the sequencing of 64 full human genomes. This reference data includes individuals from around the world and better captures the genetic diversity of the human species. Among other applications, the work will enable population-specific studies on genetic predispositions to human diseases as well as the discovery of more complex forms of genetic variation.
Twenty years ago this month, the International Human Genome Sequencing Consortium announced the first draft of the human genome reference sequence. The Human Genome Project, as it was called, required 11 years of work and involved more than 1000 scientists from 40 countries. This reference, however, did not represent a single individual, but instead was a composite of humans that could not accurately capture the complexity of human genetic variation. ....

Akikok Bowers , Nelson Chuang , E Albert Reece , Pacific Biosciences , Pacific Bioscences , Scott Devine , Luke Tallon , International Human Genome Sequencing Consortium , Genome Resource Center , University Of Washington , University Of Maryland School Medicine , Genomic Resource Center , Institute Of Genome Science , Institute For Genome Sciences , Maryland School , Human Genome Project , Associate Professor , Genome Science , Jackson Labs , Genome Sciences , Scientific Director , Executive Vice President , Medical Affairs , Distinguished Professor , Molecular Biology , Medicine Health ,

Genes offering insights into Taiwanese Han health identified: study


Genes offering insights into Taiwanese Han health identified: study
01/18/2021 10:13 PM
Photo courtesy of National Yang-Ming University
Taipei, Jan. 18 (CNA) A Taipei university has identified five key genes that provide critical insights for understanding the evolutionary history and adaption of the majority Han population in Taiwan and its susceptibility to different diseases.
The five genes identified by National Yang-Ming University (NYMU) were CTNNA2 (Catenin Alpha 2) and LRP1B (LDL Receptor Related Protein 1B) at chromosome 2, CSNK1G3 (Casein Kinase 1 Gamma 3) at chromosome 5, ASTN2 (Astrotactin 2) at chromosome 9, and NEO1 (Neogenin 1) at chromosome 15.
All five candidate genes identified in our study appear to have [multiple] effects and connections to various disease susceptibilities, the university said in a press release. ....

T Ai Pei , South Korea , Yangming University , Catenin Alpha , Ko Wen Ya , Ko Lin , National Yang Ming University , Department Of Life Sciences , University For Advanced , Institute Of Genome Sciences , Related Protein , Casein Kinase , Life Sciences , Genome Sciences , Genetic Ancestry , Taiwanese Han , Taiwan Biobank , Academia Sinica , Mackay Memorial Hospital , Graduate University , Advanced Studies , Molecular Biology , Phoenix Hsu , டி ஐ பேய் , தெற்கு கொரியா , கோ வென் யா ,