Can I read Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype on EtoBox?

Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype by Daehwan Kim; Joseph M. Paggi; Chanhee Park; Christopher Bennett; Steven L. Salzberg is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype about?

A dvances in sequencing technologies and computational methods have enabled rapid and accurate identification of genetic variants in the human population. Detailed individual genomic data, together with clinical and environmental information, promise to help improve predictions of cancer risk, inform lifestyle choices, generate more accurate clinical diagnoses, reduce adverse drug reactions (and other side effects of treatments) and improve patient outcomes through better-targeted therapies. Although massive sequencing projects over the past decade such as the 1000 Genomes Project 1,2 , GTEx 3 , GEUVADIS 4,5 and the Simons Simplex Collection (SSC) have generated trillions of reads available from public archives 8 , the ability to make use of these enormous datasets is still limited.One important limitation is that most analyses rely on the alignment of sequencing reads to the human reference genome 9 , which does not reflect the genetic diversity of individuals or populations. Sequences from humans, specifically those not included in the samples used for constructing the human reference, may align incorrectly or not at all when they originate from a region that differs from the ref

Who reads Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype?

Author

Daehwan Kim; Joseph M. Paggi; Chanhee Park; Christopher Bennett; Steven L. Salzberg

Publisher

Springer Science and Business Media LLC

Published

2019

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)