Improved haplotype inference by exploiting long-range linking and allelic imbalance in RNA-seq datasets

Haplotype reconstruction of distant genetic variants is problematic in short-read sequencing. Here, the authors describe HapTree-X, a probabilistic framework that uses differential allele-specific expression to better reconstruct paternal haplotypes from diploid and polyploid genomes.

Bibliographic Details
Main Authors: Emily Berger, Deniz Yorukoglu, Lillian Zhang, Sarah K. Nyquist, Alex K. Shalek, Manolis Kellis, Ibrahim Numanagić, Bonnie Berger
Format: Article
Language:English
Published: Nature Publishing Group 2020-09-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-020-18320-z