Institution
Broad Institute
Nonprofit•Cambridge, Massachusetts, United States•
About: Broad Institute is a nonprofit organization based out in Cambridge, Massachusetts, United States. It is known for research contribution in the topics: Population & Genome-wide association study. The organization has 6584 authors who have published 11618 publications receiving 1522743 citations. The organization is also known as: Eli and Edythe L. Broad Institute of MIT and Harvard.
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University of Cologne1, Max Planck Society2, University of Bonn3, Ghent University4, Broad Institute5, Stanford University6, Technical University of Dortmund7, Columbia University8, University of Melbourne9, St. Vincent's Health System10, University of Jena11, Casa Sollievo della Sofferenza12, University of Groningen13, VU University Amsterdam14, University of Bologna15, University of Liverpool16, University of Oslo17, University of Zurich18, Peter MacCallum Cancer Centre19, Institut Gustave Roussy20, University of Grenoble21, Vanderbilt University22, Harvard University23, University of Washington24, University of Strasbourg25
TL;DR: This study implicates histone modification as a major feature of SCLC, reveals potentially therapeutically tractable genomic alterations and provides a generalizable framework for the identification of biologically relevant genes in the context of high mutational background.
Abstract: Small-cell lung cancer (SCLC) is an aggressive lung tumor subtype with poor prognosis(1-3). We sequenced 29 SCLC exomes, 2 genomes and 15 transcriptomes and found an extremely high mutation rate of 7.4 +/- 1 protein-changing mutations per million base pairs. Therefore, we conducted integrated analyses of the various data sets to identify pathogenetically relevant mutated genes. In all cases, we found evidence for inactivation of TP53 and RB1 and identified recurrent mutations in the CREBBP, EP300 and MLL genes that encode histone modifiers. Furthermore, we observed mutations in PTEN, SLIT2 and EPHA7, as well as focal amplifications of the FGFR1 tyrosine kinase gene. Finally, we detected many of the alterations found in humans in SCLC tumors from Tp53 and Rb1 double knockout mice(4). Our study implicates histone modification as a major feature of SCLC, reveals potentially therapeutically tractable genomic alterations and provides a generalizable framework for the identification of biologically relevant genes in the context of high mutational background.
1,177 citations
University of California, San Francisco1, University of Chicago2, Yale University3, Harvard University4, Broad Institute5, Carnegie Mellon University6, Bilkent University7, Peking University8, Icahn School of Medicine at Mount Sinai9, University of Pittsburgh10, Stanford University11, Baylor College of Medicine12, University of California, Los Angeles13, Oregon Health & Science University14, Cornell University15, University of Michigan16, Brown University17, Vanderbilt University18, Howard Hughes Medical Institute19, Geisinger Health System20, University of Illinois at Chicago21
TL;DR: Analysis of de novo CNVs from the full Simons Simplex Collection replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci, including 6 CNV regions.
1,176 citations
Joint Genome Institute1, Bigelow Laboratory For Ocean Sciences2, United States Department of Agriculture3, University of California, Merced4, Broad Institute5, Oak Ridge National Laboratory6, Michigan State University7, California State University, San Bernardino8, J. Craig Venter Institute9, Max Planck Society10, Argonne National Laboratory11, Pacific Northwest National Laboratory12, University of British Columbia13, University of Southern California14, Science for Life Laboratory15, University of Vermont16, Georgia Institute of Technology17, University of Illinois at Urbana–Champaign18, University of Texas at Austin19, University of Vienna20, University of California, Davis21, University of Nevada, Las Vegas22, University of Wisconsin-Madison23, Cooperative Institute for Research in Environmental Sciences24, University of California, San Diego25, European Bioinformatics Institute26, National Institutes of Health27, University of Queensland28, Saint Petersburg State University29, University of California, Berkeley30
TL;DR: Two standards developed by the Genomic Standards Consortium (GSC) for reporting bacterial and archaeal genome sequences are presented, including the Minimum Information about a Single Amplified Genome (MISAG) and the Minimum information about a Metagenome-Assembled Genomes (MIMAG), including estimates of genome completeness and contamination.
Abstract: We present two standards developed by the Genomic Standards Consortium (GSC) for reporting bacterial and archaeal genome sequences. Both are extensions of the Minimum Information about Any (x) Sequence (MIxS). The standards are the Minimum Information about a Single Amplified Genome (MISAG) and the Minimum Information about a Metagenome-Assembled Genome (MIMAG), including, but not limited to, assembly quality, and estimates of genome completeness and contamination. These standards can be used in combination with other GSC checklists, including the Minimum Information about a Genome Sequence (MIGS), Minimum Information about a Metagenomic Sequence (MIMS), and Minimum Information about a Marker Gene Sequence (MIMARKS). Community-wide adoption of MISAG and MIMAG will facilitate more robust comparative genomic analyses of bacterial and archaeal diversity.
1,171 citations
F. Kyle Satterstrom1, F. Kyle Satterstrom2, Jack A. Kosmicki, Jiebiao Wang3 +198 more•Institutions (53)
TL;DR: The largest exome sequencing study of autism spectrum disorder (ASD) to date, using an enhanced analytical framework to integrate de novo and case-control rare variation, identifies 102 risk genes at a false discovery rate of 0.1 or less, consistent with multiple paths to an excitatory-inhibitory imbalance underlying ASD.
1,169 citations
Harvard University1, National Institutes of Health2, Medical College of Wisconsin3, University of Washington4, University of Michigan5, Stanford University6, University of Geneva7, Wellcome Trust Sanger Institute8, Washington University in St. Louis9, University of Chicago10, Yale University11, Duke University12, Boston Children's Hospital13, Baylor College of Medicine14, Lawrence Berkeley National Laboratory15, Johns Hopkins University16, University of Pennsylvania17, Broad Institute18
TL;DR: The key challenges of assessing sequence variants in human disease are discussed, integrating both gene-level and variant-level support for causality and guidelines for summarizing confidence in variant pathogenicity are proposed.
Abstract: The discovery of rare genetic variants is accelerating, and clear guidelines for distinguishing disease-causing sequence variants from the many potentially functional variants present in any human genome are urgently needed. Without rigorous standards we risk an acceleration of false-positive reports of causality, which would impede the translation of genomic research findings into the clinical diagnostic setting and hinder biological understanding of disease. Here we discuss the key challenges of assessing sequence variants in human disease, integrating both gene-level and variant-level support for causality. We propose guidelines for summarizing confidence in variant pathogenicity and highlight several areas that require further resource development.
1,165 citations
Authors
Showing all 7146 results
| Name | H-index | Papers | Citations |
|---|---|---|---|
| Eric S. Lander | 301 | 826 | 525976 |
| Albert Hofman | 267 | 2530 | 321405 |
| Frank B. Hu | 250 | 1675 | 253464 |
| David J. Hunter | 213 | 1836 | 207050 |
| Kari Stefansson | 206 | 794 | 174819 |
| Mark J. Daly | 204 | 763 | 304452 |
| Lewis C. Cantley | 196 | 748 | 169037 |
| Matthew Meyerson | 194 | 553 | 243726 |
| Gad Getz | 189 | 520 | 247560 |
| Stacey Gabriel | 187 | 383 | 294284 |
| Stuart H. Orkin | 186 | 715 | 112182 |
| Ralph Weissleder | 184 | 1160 | 142508 |
| Chris Sander | 178 | 713 | 233287 |
| Michael I. Jordan | 176 | 1016 | 216204 |
| Richard A. Young | 173 | 520 | 126642 |