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Amgen : Reports Outline Genetics Study Findings from Amgen (Graphtyper enables population-scale genotyping using pangenome graphs)

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10/05/2017 | 05:52pm CEST

By a News Reporter-Staff News Editor at Life Science Weekly -- Researchers detail new data in Life Science Research - Genetics. According to news reporting originating from Reykjavik, Iceland, by NewsRx correspondents, research stated, "A fundamental requirement for genetic studies is an accurate determination of sequence variation. While human genome sequence diversity is increasingly well characterized, there is a need for efficient ways to use this knowledge in sequence analysis."

Our news editors obtained a quote from the research from Amgen, "Here we present Graphtyper, a publicly available novel algorithm and software for discovering and genotyping sequence variants. Graphtyper realigns short-read sequence data to a pangenome, a variation-aware graph structure that encodes sequence variation within a population by representing possible haplotypes as graph paths. Our results show that Graphtyper is fast, highly scalable, and provides sensitive and accurate genotype calls. Graphtyper genotyped 89.4 million sequence variants in the whole genomes of 28,075 Icelanders using less than 100,000 CPU days, including detailed genotyping of six human leukocyte antigen (HLA) genes."

According to the news editors, the research concluded: "We show that Graphtyper is a valuable tool in characterizing sequence variation in both small and population-scale sequencing studies."

For more information on this research see: Graphtyper enables population-scale genotyping using pangenome graphs. Nature Genetics, 2017;():. (Nature Publishing Group - www.nature.com/; Nature Genetics - www.nature.com/ng/)

The news editors report that additional information may be obtained by contacting H.P. Eggertsson, deCODE Genetics, Amgen Inc, Reykjavik, Iceland. Additional authors for this research include H. Jonsson, S. Kristmundsdottir, E. Hjartarson, B. Kehr, G. Masson, F. Zink, K.E. Hjorleifsson, A. Jonasdottir, A. Jonasdottir, I. Jonsdottir, D.F. Gudbjartsson, P. Melsted, K. Stefansson and B.V Halldorsson (see also Life Science Research - Genetics).

The direct object identifier (DOI) for that additional information is: https://doi.org/10.1038/ng.3964. This DOI is a link to an online electronic document that is either free or for purchase, and can be your direct source for a journal article and its citation.

Keywords for this news article include: Europe, Iceland, Genetics, Reykjavik, Life Science Research.

Our reports deliver fact-based news of research and discoveries from around the world. Copyright 2017, NewsRx LLC

(c) 2017 NewsRx LLC, source Health Newsletters

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