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

Haplotype reconstruction of distant genetic variants remains an unsolved problem due to the short-read length of common sequencing data. Here, we introduce HapTree-X, a probabilistic framework that utilizes latent long-range information to reconstruct unspecified haplotypes in diploid and polyploid...

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Pubblicato in:Nat Commun
Autori principali: Berger, Emily, Yorukoglu, Deniz, Zhang, Lillian, Nyquist, Sarah K., Shalek, Alex K., Kellis, Manolis, Numanagić, Ibrahim, Berger, Bonnie
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7494856/
https://ncbi.nlm.nih.gov/pubmed/32938926
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-020-18320-z
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