vix.ing · top · new · best · stats · spec

Optimal haplotype assembly from high-throughput mate-pair reads

2015/06/01 by Govinda M. Kamath, Eren Şaşoğlu, David Tse · 1 citation
Biochemistry, Genetics and Molecular Biology · #Gene expression and cancer classification #Genomic variations and chromosomal abnormalities #Genomics and Chromatin Dynamics

paper · doi:10.1109/isit.2015.7282588

openalex publication_date 2015/06/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01

Abstract

Humans have 23 pairs of homologous chromosomes. The homologous pairs are almost identical pairs of chromosomes. For the most part, differences in homologous chromosome occur at certain documented positions called single nucleotide polymorphisms (SNPs).A haplotype of an individual is the pair of sequences of SNPs on the two homologous chromosomes. In this paper, we study the problem of inferring haplotypes of individuals from mate-pair reads of their genome. We give a simple formula for the coverage needed for haplotype assembly, under a generative model. The analysis here leverages connections of this problem with decoding convolutional codes.

Citations

Cited by

Related