Assessment of human diploid genome assembly with 10x Linked-Reads data.

ABSTRACT:

Background

Producing cost-effective haplotype-resolved personal genomes remains challenging. 10x Linked-Read sequencing, with its high base quality and long-range information, has been demonstrated to facilitate de novo assembly of human genomes and variant detection. In this study, we investigate in depth how the parameter space of 10x library preparation and sequencing affects assembly quality, on the basis of both simulated and real libraries.

Results

We prepared and sequenced eight 10x libraries with a diverse set of parameters from standard cell lines NA12878 and NA24385 and performed whole-genome assembly on the data. We also developed the simulator LRTK-SIM to follow the workflow of 10x data generation and produce realistic simulated Linked-Read data sets. We found th

SUBMITTER: Zhang L 

PROVIDER: S-EPMC6879002 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature