CFTR haplotype phasing using long-read genome sequencing from ultralow input DNA.

ABSTRACT:

Purpose

Newborn screening identifies rare diseases that result from the recessive inheritance of pathogenic variants in both copies of a gene. Long-read genome sequencing (LRS) is used for identifying and phasing genomic variants, but further efforts are needed to develop LRS for applications using low-yield DNA samples.

Methods

In this study, genomic DNA with high molecular weight was obtained from 2 cystic fibrosis patients, comprising a whole-blood sample (CF1) and a newborn dried blood spot sample (CF2). Library preparation and genome sequencing (30-fold coverage) were performed using 20 ng of DNA input on both the PacBio Revio system and the Illumina NovaSeq short-read sequencer. Single-nucleotide variants, small indels, and structural variants were identified for each

SUBMITTER: Gandotra N 

PROVIDER: S-EPMC11869909 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature