Demo Data from VLDB 2026 / reviewers in the wild / expert
Russell Lewis McLaughlin
dblp:292/9796
· DBLP profile ↗
1ranked-venue papers
1as first author
1since 2021 · last 2021
0000-0003-3915-2135ORCID · reported
Domains — the database's venue-derived domains; a paper can count in several
Applied, interdisciplinary, general and emerging computing · 1 · 1 first-author · 1 since 2021
Expertise — from the expertise taxonomy: the topics of the expert's papers under the CCF categories. A weight counts papers with recency: 1 for a paper about the topic, 0.3 when the topic is its context, halved every five years.
| Interdisciplinary, comprehensive, and emerging computing
1 paper |
Bioinformatics and computational biology · 100% |
Topics — the 1 heaviest of 1, each with the papers that count most for it
| Topic | Weight | Papers | Last | Evidence papers |
|---|---|---|---|---|
Bioinformatics and computational biology › genomics › structural variation
structural variation detection |
0.5 | 1 | 2021 | REscan: inferring repeat expansions and structural variation in paired-end short read sequencing data · Bioinform. 2021 |
Methods — techniques the papers use, named apart from their topics
paired-end read analysis · 0.5
| Year | Publication | Venue | Position |
|---|---|---|---|
| 2021 | REscan: inferring repeat expansions and structural variation in paired-end short read sequencing dataabstractMOTIVATION: Repeat expansions are an important class of genetic variation in neurological diseases. However, the identification of novel repeat expansions using conventional sequencing methods is a challenge due to their typical lengths relative to short sequence reads and difficulty in producing accurate and unique alignments for repetitive sequence. However, this latter property can be harnessed in paired-end sequencing data to infer the possible locations of repeat expansions and other structural variation. RESULTS: This article presents REscan, a command-line utility that infers repeat expansion loci from paired-end short read sequencing data by reporting the proportion of reads orientated towards a locus that do not have an adequately mapped mate. A high REscan statistic relative to a population of data suggests a repeat expansion locus for experimental follow-up. This approach is validated using genome sequence data for 259 cases of amyotrophic lateral sclerosis, of which 24 are positive for a large repeat expansion in C9orf72, showing that REscan statistics readily discriminate repeat expansion carriers from non-carriers. AVAILABILITYAND IMPLEMENTATION: C source code at https://github.com/rlmcl/rescan (GNU General Public Licence v3). Russell Lewis McLaughlin |
Bioinform. | 1 |