Evidence map›Paper›PMID 40736893›Full record

ReviewMethods in molecular biology (Clifton, N.J.)2025

Current Progress in Phased Genome Assembly from Long-Read DNA Sequencing Data.

Jorge Ivan Diaz-Riaño, Jorge Duitama

Abstract readReview
PubMed Publisher
In one paragraph

Review in Methods in molecular biology (Clifton, N.J.), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors.

Jorge Ivan Diaz-RiañoSystems and computing Engineering Department, Universidad de los Andes, Bogotá, Colombia.
Jorge DuitamaSystems and computing Engineering Department, Universidad de los Andes, Bogotá, Colombia. ja.duitama@uniandes.edu.co.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genome assembly is a core task in the field of genomics. The availability of long-read sequencing technologies enabled the construction of high-quality complex genomes, including phasing of heterozygous contigs. This chapter provides an overview of the main algorithmic techniques for genome assembly. It starts revisiting the two main data structures used for unphased genome assembly, namely, the overlap graph and the de Bruijn graph. Then, it describes current protocols and sequencing alternatives such as trio data and Hi-C to provide long-range information for scaffolding and phasing. Next, it describes the metrics that have been developed to evaluate completeness accuracy and base pair quality. Finally, this chapter provides detailed information on the core algorithmic ideas of four different tools to perform phased genome assemblies (FALCON, HiCanu, Hifiasm, and NGSEP). A review of classic techniques for phasing based on aligned reads is included to provide a context of basic concepts needed to understand the algorithms implemented in the genome assemblers.

Indexed as

Computational BiologyGenomeGenomicsHigh-Throughput Nucleotide SequencingSequence Analysis, DNAAlgorithmsContig MappingHumansSoftwareAlgorithmsGenome assemblyHaplotypeLong-reads SequencingPhasing Genomes

Identifiers

What Socratic holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.