Archive for the 'SciLit' Category

Found this review

May 31, 2015

Nice graph of seq. machine output v time

http://www.cell.com/molecular-cell/abstract/S1097-2765(15)00340-8

Machine learning applications in genetics and genomics : Nature Reviews Genetics : Nature Publishing Group

May 30, 2015

#Machinelearning applications in…genomics
http://www.nature.com/nrg/journal/v16/n6/full/nrg3920.html Nice overview of key distinctions betw generative & discriminative models

In their review, “Machine learning in genetics and genomics”, Libbrecht and Noble overview important aspects of application of machine learning to genomic data. The review presents illustrative classical genomics problems where machine learning techniques have proven useful and describes the differences between supervised, semi-supervised and unsupervised learning as well as generative and discriminative models. The authors discuss considerations that should be made when selecting the right machine learning approach depending on the biological problem and data at hand, provide general practical guidelines and suggest possible solutions to common challenges.

Identification of Asthma Phenotypes Using Cluster Analysis in the Severe Asthma Research Program (ATS Journals)

May 30, 2015

Identification of #Asthma Phenotypes Using Cluster Analysis
http://www.atsjournals.org/doi/abs/10.1164/rccm.200906-0896OC#.VWk-gFxViko 5 canonical groups based on lung function, meds usage, &c

Canonical clustering of asthmatic patients into different groups

Noninvasive Analysis of the Sputum Transcriptome Discriminates Clinical Phenotypes of Asthma (ATS Journals)

May 30, 2015

Analysis of the Sputum Transcriptome Discriminates Clinical Phenotypes of Asthma http://www.atsjournals.org/doi/abs/10.1164/rccm.201408-1440OC Consistent blood expression patterns

Noninvasive Analysis of the Sputum Transcriptome Discriminates
Clinical Phenotypes of Asthma (ATS Journals)

Yan, X., Chu, J.-H., Gomez, J., Koenigs, M., Holm, C., He, X., Perez,
M. F., Zhao, H., Mane, S., Martinez, F. D., Ober, C., Nicolae, D. L.,
Barnes, K. C., London, S. J., Gilliland, F., Weiss, S. T., Raby, B.
A., Cohn, L., and Chupp, G. L. “Non-Invasive Analysis of the Sputum
Transcriptome Discriminates Clinical Phenotypes of Asthma” American
Journal of Respiratory and Critical Care Medicine (2015):
doi:10.1164/rccm.201408-1440OC,

QT:{{"
Conclusions: There are common patterns of gene expression in the
sputum and blood of children and adults that are associated with near
fatal, severe and milder asthma.
"}}

Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding

May 25, 2015

Mtn gorilla genomes reveal…impact of long-term…inbreeding http://www.sciencemag.org/content/348/6231/242 Pop. variation so low that very deleterious SNPs purged

Science 10 April 2015:
Vol. 348 no. 6231 pp. 242-245
DOI: 10.1126/science.aaa3952

Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding

Yali Xue1,*,
Javier Prado-Martinez2,*,
Peter H. Sudmant3,*,

Tomas Marques-Bonet2,12,
Chris Tyler-Smith1,†,
Aylwyn Scally13,†

ALK Mutations Confer Differential Oncogenic Activation and Sensitivity to ALK Inhibition Therapy in Neuroblastoma: Cancer Cell

May 22, 2015

ALK Mutations Confer Differential Oncogenic Activation
http://www.cell.com/cancer-cell/abstract/S1535-6108%2814%2900393-6 MD modeling better assessing #SNV impact than stats, ie sift

ALK Mutations Confer Differential Oncogenic Activation and Sensitivity to ALK Inhibition Therapy in Neuroblastoma

Scott C. Bresler
Daniel A. Weiser
Peter J. Huwe

Ravi Radhakrishnan
Mark A. Lemmon
Yaël P. Mossé

DOI: http://dx.doi.org/10.1016/j.ccell.2014.09.019

Identifying personal microbiomes using metagenomic codes

May 17, 2015

Identifying personal microbiomes using metagenomic codes
http://www.pnas.org/content/early/2015/05/08/1423854112.abstract Pot. tracking & #privacy implications
http://www.the-scientist.com/?articles.view/articleNo/42950/title/Microbiome-Fingerprints

http://www.pnas.org/content/early/2015/05/08/1423854112.abstract

doi: 10.1073/pnas.1423854112

Identifying personal microbiomes using metagenomic codes

Eric A. Franzosa
Katherine Huang
James F. Meadow
Dirk Gevers
Katherine P. Lemond
Brendan J. M. Bohannanc
Curtis Huttenhower

Comparative genomics reveals insights into avian genome evolution and adaptation

May 16, 2015

Comparative #genomics reveals insights into avian…#evolution http://www.sciencemag.org/content/346/6215/1311 Less repeats & dups in birds; woodpecker, an exception

Science 12 December 2014:
Vol. 346 no. 6215 pp. 1311-1320
DOI: 10.1126/science.1251385

Comparative genomics reveals insights into avian genome evolution and adaptation

Guojie Zhang1,2,*,†,
Cai Li1,3,*,
….
Avian Genome Consortium§,
Erich D. Jarvis20,†,
M. Thomas P. Gilbert3,56,†,
Jun Wang1,55,57,58,59,†

Characterization of structural variants with single molecule and hybrid sequencing approaches

May 16, 2015

Characterization of #SVs w. single molecule & hybrid sequencing http://bioinformatics.oxfordjournals.org/content/30/24/3458.abstract Probabilistic read mapping, re-evaluating adjacencies

QT:{{"
We present MultiBreak-SV, an algorithm to detect structural variants
(SVs) from single molecule sequencing data, paired read sequencing
data, or a combination of sequencing data from different platforms.
"}}

Rebooting MOOC Research

May 15, 2015

Rebooting #MOOC Research https://www.sciencemag.org/content/347/6217/34.summary
Perspective from an #education institution: How to measure engagement of the student?