Evaluating data requirements for high-quality haplotype-resolved genomes for creating robust pangenome references

Prasad Sarashetti, Josipa Lipovac, Filip Tomas, Mile Šikić, Jianjun Liu · 2024

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Description

Prasad Sarashetti and four colleagues present a 2024 genomics study on how much sequencing data a top-quality genome assembly really needs. New long-read machines can rebuild a person's two chromosome sets separately, and many such genomes can form a pangenome reference that captures human diversity. But data choices drive both quality and cost, and guidance was missing.

The team compared two leading platforms and data types at different depths. Chromosome-level, fully phased assembly took about twentyfold coverage of accurate long reads, plus ultra-long reads and long-range contact data for each chromosome set. One platform phased slightly more accurately; the other produced more complete end-to-end pieces. Their recipe should help pangenome projects spend wisely.

Catalog record

CREATORPrasad Sarashetti, Josipa Lipovac, Filip Tomas, Mile Šikić, Jianjun Liu
YEAR2024
COLLECTIONPAPERS
FORMATTXT
FILE SIZE43 KB
VERSION1.0
LICENSECC BY 4.0
RIGHTSCC BY
SOURCEEurope PMC

Source: https://europepmc.org/articles/PMC11658127

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