The impact of #SVs on…gene expression
http://biorxiv.org/content/early/2016/06/09/055962 24k in 147 people in GTEx pilot act as causal variants in 3-7% of ~25k eQTLs
The impact of structural variation on human gene expression
Colby Chiang, Alexandra J Scott, Joe R Davis, Emily
K Tsang, Xin Li, Yungil Kim, Farhan N Damani, Liron Ganel, GTEx Consortium, Stephen B Montgomery, Alexis Battle, Donald F Conrad, Ira M Hall
doi: https://doi.org/10.1101/055962
Set of 5.4M phased…variants…from seq. a 3-gen. 17-member [CEPH] pedigree, centered on #NA12878
http://genome.cshlp.org/content/early/2016/11/25/gr.210500.116 $ILMN Pt genomes
A reference data set of 5.4 million phased human
variants validated by genetic inheritance from
sequencing a three-generation 17-member pedigree
Michael A. Eberle,1 Epameinondas Fritzilas,2 Peter Krusche,2 Morten Källberg,2 Benjamin L. Moore,2 Mitchell A. Bekritsky,2 Zamin Iqbal,3 Han-Yu Chuang,1 Sean J. Humphray,2 Aaron L. Halpern,1 Semyon Kruglyak,1 Elliott H. Margulies,1 Gil McVean,3,4 and David R. Bentley2
http://genome.cshlp.org/content/early/2016/11/25/gr.210500.116
The $AMZN Echo’s always-listening feature entangles it in a murder
case http://www.pcworld.com/article/3152899/smart-appliance/the-amazon-echos-always-listening-feature-entangles-it-in-a-murder-case.html Did the victim say “#Alexa, call the cops”
computerizes your med. records
Gene expr. elucidates functional impact of…risk for SCZ
http://www.nature.com/neuro/journal/vaop/ncurrent/full/nn.4399.html CMC resource contains >2.1M #eQTLs involving ~1.6M SNPs
NATURE NEUROSCIENCE | ARTICLE
Gene expression elucidates functional impact of polygenic risk for schizophrenia
Menachem Fromer,
Panos Roussos,
Solveig K Sieberts,
Jessica S Johnson,
David H Kavanagh,
Thanneer M Perumal,
Douglas M Ruderfer,
….
Eric E Schadt,
Keisuke Hirai,
Kathryn Roeder,
Kristen J Brennand,
Nicholas Katsanis,
Enrico Domenici,
Bernie Devlin
& Pamela Sklar
Gamma frequency entrainment attenuates amyloid load & modifies microglia http://www.nature.com/nature/journal/v540/n7632/full/nature20587.html Buying a 40 Hz light to fight Alzheimer’s!
Protein-structure-guided discovery of functional mutations across 19 #cancer types http://www.nature.com/ng/journal/v48/n8/abs/ng.3586.html Cancer3D relates SNVs to drugs
There are BrainSpan genotypes available through dbGAP:
https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000406.v1.p1