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Broad Institute of MIT & Harvard 's Articles

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Page 3 of 13

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Authors: Katherine Johnson, Marta Bertoli, Lauren Phillips, Ana Töpf, Peter Van den Bergh, John Vissing, Nanna Witting, Shahriar Nafissi, Shirin Jamal-Omidi, Anna Łusakowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Nicolas Deconinck, Carina Wallgren-Pettersson, Sonja Strang-Karlsson, Jaume Colomer…

Citation: Skeletal Muscle 2018 8:23

Content type: Research

Published on: 30 July 2018
Methods for high-dimensional analysis of cells dissociated from cryopreserved synovial tissue

Authors: Laura T. Donlin, Deepak A. Rao, Kevin Wei, Kamil Slowikowski, Mandy J. McGeachy, Jason D. Turner, Nida Meednu, Fumitaka Mizoguchi, Maria Gutierrez-Arcelus, David J. Lieb, Joshua Keegan, Kaylin Muskat, Joshua Hillman, Cristina Rozo, Edd Ricker, Thomas M. Eisenhaure…

Citation: Arthritis Research & Therapy 2018 20:139

Content type: Research article

Published on: 11 July 2018
BROCKMAN: deciphering variance in epigenomic regulators by k-mer factorization

Authors: Carl G. de Boer and Aviv Regev

Citation: BMC Bioinformatics 2018 19:253

Content type: Methodology article

Published on: 3 July 2018
Genome-wide association study meta-analysis identifies five new loci for systemic lupus erythematosus

Authors: Antonio Julià, Francisco Javier López-Longo, José J. Pérez Venegas, Silvia Bonàs-Guarch, Àlex Olivé, José Luís Andreu, Mª. Ángeles Aguirre-Zamorano, Paloma Vela, Joan M. Nolla, José Luís Marenco de la Fuente, Antonio Zea, José María Pego-Reigosa, Mercedes Freire, Elvira Díez, Esther Rodríguez-Almaraz, Patricia Carreira…

Citation: Arthritis Research & Therapy 2018 20:100

Content type: Research article

Published on: 30 May 2018
hmmIBD: software to infer pairwise identity by descent between haploid genotypes

Authors: Stephen F. Schaffner, Aimee R. Taylor, Wesley Wong, Dyann F. Wirth and Daniel E. Neafsey

Citation: Malaria Journal 2018 17:196

Content type: Methodology

Published on: 15 May 2018
Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms

Authors: Maura Costello, Mark Fleharty, Justin Abreu, Yossi Farjoun, Steven Ferriera, Laurie Holmes, Brian Granger, Lisa Green, Tom Howd, Tamara Mason, Gina Vicente, Michael Dasilva, Wendy Brodeur, Timothy DeSmet, Sheila Dodge, Niall J. Lennon…

Citation: BMC Genomics 2018 19:332

Content type: Research article

Published on: 8 May 2018
A Bayesian approach to determine the composition of heterogeneous cancer tissue

Authors: Ashish Katiyar, Anwoy Mohanty, Jianping Hua, Sima Chao, Rosana Lopes, Aniruddha Datta and Michael L. Bittner

Citation: BMC Bioinformatics 2018 19(Suppl 3):90

Content type: Research

Published on: 21 March 2018

This article is part of a Supplement: Volume 19 Supplement 3
Assessing microscope image focus quality with deep learning

Authors: Samuel J. Yang, Marc Berndl, D. Michael Ando, Mariya Barch, Arunachalam Narayanaswamy, Eric Christiansen, Stephan Hoyer, Chris Roat, Jane Hung, Curtis T. Rueden, Asim Shankar, Steven Finkbeiner and Philip Nelson

Citation: BMC Bioinformatics 2018 19:77

Content type: Software

Published on: 15 March 2018
Host genetic variation and its microbiome interactions within the Human Microbiome Project

Authors: Raivo Kolde, Eric A. Franzosa, Gholamali Rahnavard, Andrew Brantley Hall, Hera Vlamakis, Christine Stevens, Mark J. Daly, Ramnik J. Xavier and Curtis Huttenhower

Citation: Genome Medicine 2018 10:6

Content type: Research

Published on: 29 January 2018
Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

Authors: Hoang T. Nguyen, Julien Bryois, April Kim, Amanda Dobbyn, Laura M. Huckins, Ana B. Munoz-Manchado, Douglas M. Ruderfer, Giulio Genovese, Menachem Fromer, Xinyi Xu, Dalila Pinto, Sten Linnarsson, Matthijs Verhage, August B. Smit, Jens Hjerling-Leffler, Joseph D. Buxbaum…

Citation: Genome Medicine 2017 9:114

Content type: Research

Published on: 20 December 2017
Synima: a Synteny imaging tool for annotated genome assemblies

Authors: Rhys A. Farrer

Citation: BMC Bioinformatics 2017 18:507

Content type: Software

Published on: 21 November 2017
Identifying predictive features of Clostridium difficile infection recurrence before, during, and after primary antibiotic treatment

Authors: Sepideh Pakpour, Amit Bhanvadia, Roger Zhu, Abhimanyu Amarnani, Sean M. Gibbons, Thomas Gurry, Eric J. Alm and Laura A. Martello

Citation: Microbiome 2017 5:148

Content type: Research

Published on: 13 November 2017
Actionable gene-based classification toward precision medicine in gastric cancer

Authors: Hiroshi Ichikawa, Masayuki Nagahashi, Yoshifumi Shimada, Takaaki Hanyu, Takashi Ishikawa, Hitoshi Kameyama, Takashi Kobayashi, Jun Sakata, Hiroshi Yabusaki, Satoru Nakagawa, Nobuaki Sato, Yuki Hirata, Yuko Kitagawa, Toshiyuki Tanahashi, Kazuhiro Yoshida, Ryota Nakanishi…

Citation: Genome Medicine 2017 9:93

Content type: Research

Published on: 31 October 2017
Malaria prevalence, prevention and treatment seeking practices among nomadic pastoralists in northern Senegal

Authors: Mame Cheikh Seck, Julie Thwing, Fatou Ba Fall, Jules Francois Gomis, Awa Deme, Yaye Die Ndiaye, Rachel Daniels, Sarah K. Volkman, Medoune Ndiop, Mady Ba and Daouda Ndiaye

Citation: Malaria Journal 2017 16:413

Content type: Research

Published on: 13 October 2017
Emergence and loss of spliceosomal twin introns

Authors: Michel Flipphi, Norbert Ág, Levente Karaffa, Napsugár Kavalecz, Gustavo Cerqueira, Claudio Scazzocchio and Erzsébet Fekete

Citation: Fungal Biology and Biotechnology 2017 4:7

Content type: Research

Published on: 6 October 2017
Schrödinger’s microbes: Tools for distinguishing the living from the dead in microbial ecosystems

Authors: Joanne B. Emerson, Rachel I. Adams, Clarisse M. Betancourt Román, Brandon Brooks, David A. Coil, Katherine Dahlhausen, Holly H. Ganz, Erica M. Hartmann, Tiffany Hsu, Nicholas B. Justice, Ivan G. Paulino-Lima, Julia C. Luongo, Despoina S. Lymperopoulou, Cinta Gomez-Silvan, Brooke Rothschild-Mancinelli, Melike Balk…

Citation: Microbiome 2017 5:86

Content type: Review

Published on: 16 August 2017
Cerebrospinal fluid kynurenine and kynurenic acid concentrations are associated with coma duration and long-term neurocognitive impairment in Ugandan children with cerebral malaria

Authors: Dag Holmberg, Elisabeth Franzén-Röhl, Richard Idro, Robert O. Opoka, Paul Bangirana, Carl M. Sellgren, Ronny Wickström, Anna Färnert, Lilly Schwieler, Göran Engberg and Chandy C. John

Citation: Malaria Journal 2017 16:303

Content type: Research

Published on: 28 July 2017
Dissecting the role of non-coding RNAs in the accumulation of amyloid and tau neuropathologies in Alzheimer’s disease

Authors: Ellis Patrick, Sathyapriya Rajagopal, Hon-Kit Andus Wong, Cristin McCabe, Jishu Xu, Anna Tang, Selina H. Imboywa, Julie A. Schneider, Nathalie Pochet, Anna M. Krichevsky, Lori B. Chibnik, David A. Bennett and Philip L. De Jager

Citation: Molecular Neurodegeneration 2017 12:51

Content type: Research article

Published on: 1 July 2017
Dissecting the human microbiome with single-cell genomics

Authors: Andrew C. Tolonen and Ramnik J. Xavier

Citation: Genome Medicine 2017 9:56

Content type: Comment

Published on: 14 June 2017
High-throughput validation of ceRNA regulatory networks

Authors: Hua-Sheng Chiu, María Rodríguez Martínez, Mukesh Bansal, Aravind Subramanian, Todd R. Golub, Xuerui Yang, Pavel Sumazin and Andrea Califano

Citation: BMC Genomics 2017 18:418

Content type: Research article

Published on: 30 May 2017

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Broad Institute of MIT & Harvard

Broad Institute of MIT & Harvard 's Articles

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Methods for high-dimensional analysis of cells dissociated from cryopreserved synovial tissue

BROCKMAN: deciphering variance in epigenomic regulators by k-mer factorization

Genome-wide association study meta-analysis identifies five new loci for systemic lupus erythematosus

hmmIBD: software to infer pairwise identity by descent between haploid genotypes

Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms

A Bayesian approach to determine the composition of heterogeneous cancer tissue

Assessing microscope image focus quality with deep learning

Host genetic variation and its microbiome interactions within the Human Microbiome Project

Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

Synima: a Synteny imaging tool for annotated genome assemblies

Identifying predictive features of Clostridium difficile infection recurrence before, during, and after primary antibiotic treatment

Actionable gene-based classification toward precision medicine in gastric cancer

Malaria prevalence, prevention and treatment seeking practices among nomadic pastoralists in northern Senegal

Emergence and loss of spliceosomal twin introns

Schrödinger’s microbes: Tools for distinguishing the living from the dead in microbial ecosystems

Cerebrospinal fluid kynurenine and kynurenic acid concentrations are associated with coma duration and long-term neurocognitive impairment in Ugandan children with cerebral malaria

Dissecting the role of non-coding RNAs in the accumulation of amyloid and tau neuropathologies in Alzheimer’s disease

Dissecting the human microbiome with single-cell genomics

High-throughput validation of ceRNA regulatory networks