TL;DR该研究从信息论的角度探讨了单倍型组装问题,发现 DNA 测序技术提供的短读序列可以用于恢复目标单倍型序列。研究将这一问题重新表述为联合源通道编码问题,并给出了最佳边界的充分必要条件以及所需短读的数量,重点是可靠的单倍型重建。
Abstract
This paper studies the haplotype assembly problem from an information
theoretic perspective. A haplotype is a sequence of nucleotide bases on a
chromosome, often conveniently represented by a binary string, that differ from
the bases in the corresponding positions on the other chromoso