The importance of phase information for human genomics

R Tewhey, V Bansal, A Torkamani, EJ Topol… - Nature Reviews …, 2011 - nature.com
Contemporary sequencing studies often ignore the diploid nature of the human genome
because they do not routinely separate or'phase'maternally and paternally derived …

Using haplotype information for conservation genomics

M Leitwein, M Duranton, Q Rougemont… - Trends in ecology & …, 2020 - cell.com
The particular combinations of alleles that define haplotypes along individual chromosomes
can be determined with increasing ease and accuracy by using current sequencing …

Natural selection interacts with recombination to shape the evolution of hybrid genomes

M Schumer, C Xu, DL Powell, A Durvasula, L Skov… - Science, 2018 - science.org
To investigate the consequences of hybridization between species, we studied three
replicate hybrid populations that formed naturally between two swordtail fish species …

A general approach for haplotype phasing across the full spectrum of relatedness

J O'Connell, D Gurdasani, O Delaneau, N Pirastu… - PLoS …, 2014 - journals.plos.org
Many existing cohorts contain a range of relatedness between genotyped individuals, either
by design or by chance. Haplotype estimation in such cohorts is a central step in many …

Stable recombination hotspots in birds

S Singhal, EM Leffler, K Sannareddy, I Turner, O Venn… - Science, 2015 - science.org
The DNA-binding protein PRDM9 has a critical role in specifying meiotic recombination
hotspots in mice and apes, but it appears to be absent from other vertebrate species …

Non-crossover gene conversions show strong GC bias and unexpected clustering in humans

AL Williams, G Genovese, T Dyer, N Altemose, K Truax… - Elife, 2015 - elifesciences.org
Although the past decade has seen tremendous progress in our understanding of fine-scale
recombination, little is known about non-crossover (NCO) gene conversion. We report the …

Crossover interference and sex-specific genetic maps shape identical by descent sharing in close relatives

M Caballero, DN Seidman, Y Qiao, J Sannerud… - PLoS …, 2019 - journals.plos.org
Simulations of close relatives and identical by descent (IBD) segments are common in
genetic studies, yet most past efforts have utilized sex averaged genetic maps and ignored …

HapTree: a novel Bayesian framework for single individual polyplotyping using NGS data

E Berger, D Yorukoglu, J Peng… - PLoS computational …, 2014 - journals.plos.org
As the more recent next-generation sequencing (NGS) technologies provide longer read
sequences, the use of sequencing datasets for complete haplotype phasing is fast becoming …

DNA sequencing: clinical applications of new DNA sequencing technologies

FE Dewey, S Pan, MT Wheeler, SR Quake, EA Ashley - Circulation, 2012 - Am Heart Assoc
We are in a time of great change in genetics that may dramatically impact human biology
and medicine. The completion of the human genome project, 1, 2 the development of low …

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

E Berger, D Yorukoglu, L Zhang, SK Nyquist… - Nature …, 2020 - nature.com
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 …