<![CDATA[BOL: Related items]]> https://bioinformaticsonline.com/related/40510?offset=140 https://bioinformaticsonline.com/bookmarks/view/44481/unialigner-a-parameter-free-framework-for-fast-sequence-alignment Fri, 08 Mar 2024 23:36:12 -0600 https://bioinformaticsonline.com/bookmarks/view/44481/unialigner-a-parameter-free-framework-for-fast-sequence-alignment <![CDATA[UniAligner: a parameter-free framework for fast sequence alignment]]> UniAligner (formerly, TandemAligner) is the first parameter-free algorithm for sequence alignment that introduces a sequence-dependent alignment scoring that automatically changes for any pair of compared sequences. Classical alignment approaches, such as the Smith-Waterman algorithm, that work well for most sequences, fail to construct biologically adequate alignments of extra-long tandem repeats (ETRs), such as human centromeres and immunoglobulin loci. This limitation was overlooked in the previous studies since the sequences of the centromeres and other ETRs across multiple genomes only became available recently.

More at https://www.nature.com/articles/s41592-023-01970-4

Address of the bookmark: https://github.com/seryrzu/unialigner

]]> Abhi https://bioinformaticsonline.com/news/view/11365/drawback-of-exome-sequencing Mon, 02 Jun 2014 05:46:43 -0500 https://bioinformaticsonline.com/news/view/11365/drawback-of-exome-sequencing <![CDATA[Drawback of Exome Sequencing]]> Dr Eric Londin, Assistant Professor, Thomas Jefferson University, USA, stated that analysis of 44 exome datasets from four different testing kits showed that they missed a high proportion of clinically relevant regions in the 56 ACMG genes. "At least one gene in each exome method was missing more than 40 percent of disease-causing genetic variants, and we found that the worst-performing method missed more than 90 percent of such variants in four of the 56 genes," he says.

Source: http://www.eurekalert.org/pub_releases/2014-05/esoh-pco052914.php

]]> Rahul Agarwal