Monday, May 18, 2015

Nature Reviews Genetics Contents June 2015 Volume 16 Number 6 pp 313-371

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Nature Reviews Genetics


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TABLE OF CONTENTS
 
June 2015 Volume 16 Number 6Advertisement
Nature Reviews Genetics cover
Impact Factor 39.794 *
In this issue
Comment
Research Highlights
Reviews


Also this month
Article series:
Applications of next-generation sequencing
 Featured article:
Evidence for archaic adaptive introgression in humans
Fernando Racimo, Sriram Sankararaman, Rasmus Nielsen & Emilia Huerta-Sánchez


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Comment: The diverse origins of the human gene pool
Svante Pääbo
p313 | doi:10.1038/nrg3954
Abstract | Full Text | PDF

RESEARCH HIGHLIGHTS
Top

Non-coding RNA: X chromosome inactivation unravelled
p315 | doi:10.1038/nrg3955
PDF


Chromosome biology: Diverse evolution of sex chromosomes in flies
p316 | doi:10.1038/nrg3952
PDF


Genetic testing: cfDNA screening for trisomy 21 tested in unselected pregnancies
p316 | doi:10.1038/nrg3953
PDF


Disease genetics: Network effects of disease mutations
p317 | doi:10.1038/nrg3957
PDF


Ageing: Heterochromatin disorganization associated with premature ageing
p318 | doi:10.1038/nrg3958
PDF


In the news
p318 | doi:10.1038/nrg3959
PDF


RNA: Putting transcriptomics in its place
p319 | doi:10.1038/nrg3951
PDF


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REVIEWS
Top
Machine learning applications in genetics and genomics
Maxwell W. Libbrecht & William Stafford Noble
p321 | doi:10.1038/nrg3920
Machine learning methods are becoming increasingly important in the analysis of large-scale genomic, epigenomic, proteomic and metabolic data sets. In this Review, the authors consider the applications of supervised, semi-supervised and unsupervised machine learning methods to genetic and genomic studies. They provide general guidelines for the selection and application of algorithms that are best suited to particular study designs.
Abstract | Full Text | PDF

Estimating the mutation load in human genomes
Brenna M. Henn, Laura R. Botigué, Carlos D. Bustamante, Andrew G. Clark & Simon Gravel
p333 | doi:10.1038/nrg3931
A large proportion of genetic variants in the human genome have been predicted to be deleterious. This Review examines the frequency and patterns of deleterious alleles in the human genome and considers recent studies with conflicting findings on whether the mutation load, or burden of deleterious alleles, differs across populations.
Abstract | Full Text | PDF | Supplementary information

Article series: Applications of next-generation sequencing
Haplotype-resolved genome sequencing: experimental methods and applications
Matthew W. Snyder, Andrew Adey, Jacob O. Kitzman & Jay Shendure
p344 | doi:10.1038/nrg3903
High-throughput DNA sequencing technologies are providing an ever-expanding wealth of genome sequence data, including detailed information on human genetic variation. However, such data typically lack haplotype information (that is, the cis-connectivity of variants along individual chromosomes). This Review describes diverse recent experimental methods by which genetic variants can be resolved into haplotypes, accompanying computational methods and important applications of these methods in genomics and biomedical science.
Abstract | Full Text | PDF

Evidence for archaic adaptive introgression in humans
Fernando Racimo, Sriram Sankararaman, Rasmus Nielsen & Emilia Huerta-Sánchez
p359 | doi:10.1038/nrg3936
The analysis of whole-genome sequence data from both modern and ancient humans has provided evidence for archaic adaptive introgression. Here, the authors provide an overview of the statistical methods used and the supporting evidence for reported examples of archaic introgression, which may have driven the acquisition of beneficial variants that enabled adaptation and survival in new environments.
Abstract | Full Text | PDF | Supplementary information

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