User profiles for Mark B Gerstein

Mark Gerstein

Professor of Biomedical Informatics, Yale University
Verified email at yale.edu
Cited by 219796

[PDF][PDF] The molecular taxonomy of primary prostate cancer

…, N Gehlenborg, M Gerken, MB Gerstein… - Cell, 2015 - cell.com
There is substantial heterogeneity among primary prostate cancers, evident in the spectrum
of molecular abnormalities and its variable clinical course. As part of The Cancer Genome …

[HTML][HTML] An integrated map of structural variation in 2,504 human genomes

…, RE Mills, MB Gerstein… - Nature, 2015 - nature.com
Structural variants are implicated in numerous diseases and make up the majority of varying
nucleotides among human genomes. Here we describe an integrated set of eight structural …

[HTML][HTML] Expanded encyclopaedias of DNA elements in the human and mouse genomes

…, RM Myers, B Ren, BR Graveley, MB Gerstein… - Nature, 2020 - nature.com
The human and mouse genomes contain instructions that specify RNAs and proteins and
govern the timing, magnitude, and cellular context of their production. To better delineate these …

[HTML][HTML] The genomic complexity of primary human prostate cancer

…, PW Kantoff, L Chin, SB Gabriel, MB Gerstein… - Nature, 2011 - nature.com
Prostate cancer is the second most common cause of male cancer deaths in the United
States. However, the full range of prostate cancer genomic alterations is incompletely …

[HTML][HTML] Architecture of the human regulatory network derived from ENCODE data

MB Gerstein, A Kundaje, M Hariharan, SG Landt… - Nature, 2012 - nature.com
Transcription factors bind in a combinatorial fashion to specify the on-and-off states of genes;
the ensemble of these binding events forms a regulatory network, constituting the wiring …

Paired-end mapping reveals extensive structural variation in the human genome

…, ME Hurles, SM Weissman, TT Harkins, MB Gerstein… - Science, 2007 - science.org
Structural variation of the genome involves kilobase- to megabase-sized deletions, duplications,
insertions, inversions, and complex combinations of rearrangements. We introduce high…

A systematic survey of loss-of-function variants in human protein-coding genes

…, JC Barrett, J Harrow, ME Hurles, MB Gerstein… - Science, 2012 - science.org
Genome-sequencing studies indicate that all humans carry many genetic variants predicted
to cause loss of function (LoF) of protein-coding genes, suggesting unexpected redundancy …

Transcriptional landscape of the prenatal human brain

…, AJ Sodt, D Williams, L Zöllei, B Fischl, MB Gerstein… - Nature, 2014 - nature.com
The anatomical and functional architecture of the human brain is mainly determined by prenatal
transcriptional processes. We describe an anatomically comprehensive atlas of the mid-…

Integrative Analysis of the Caenorhabditis elegans Genome by the modENCODE Project

MB Gerstein, ZJ Lu, EL Van Nostrand, C Cheng… - Science, 2010 - science.org
We systematically generated large-scale data sets to improve genome annotation for the
nematode Caenorhabditis elegans, a key model organism. These data sets include …

Mapping copy number variation by population-scale genome sequencing

…, M Snyder, J Wang, K Ye, EE Eichler, MB Gerstein… - Nature, 2011 - nature.com
Genomic structural variants (SVs) are abundant in humans, differing from other forms of
variation in extent, origin and functional impact. Despite progress in SV characterization, the …