Publications by authors named "Avinash Ramu"

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Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.
Kelsy C Cotto, Yang-Yang Feng, Avinash Ramu, Megan Richters, Sharon L Freshour, Zachary L Skidmore, Huiming Xia, Joshua F McMichael, Jason Kunisaki, Katie M Campbell

Nat Commun· March 2023

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Active learning of enhancers and silencers in the developing neural retina.
Ryan Z Friedman, Avinash Ramu, Sara Lichtarge, Yawei Wu, Lloyd Tripp

Cell Syst· January 2025

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Effect of genomic and cellular environments on gene expression noise.
Clarice K Y Hong, Avinash Ramu, Siqi Zhao, Barak A Cohen

Genome Biol· May 2024

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Active learning of enhancer and silencer regulatory grammar in photoreceptors.
Ryan Z Friedman, Avinash Ramu, Sara Lichtarge, Connie A Myers, David M Granas

bioRxiv· August 2023

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Transcription factor fluctuations underlie cell-to-cell variability in a signaling pathway response.
Avinash Ramu, Barak A Cohen

Genetics· July 2023

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The origins and functional effects of postzygotic mutations throughout the human life span.
Nicole B Rockweiler, Avinash Ramu, Liina Nagirnaja, Wing H Wong, Michiel J Noordam

Science· April 2023

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A dominant negative variant of disrupts maturation of surfactant protein B and surfactant protein C.
Huiyan Huang, Jiehong Pan, David R Spielberg, Neil A Hanchard, Daryl A Scott, Avinash Ramu

Proc Natl Acad Sci U S A· February 2022

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The genetic architecture of sporadic and multiple consecutive miscarriage.
Triin Laisk, Ana Luiza G Soares, Teresa Ferreira, Jodie N Painter, Jenny C Censin, Avinash Ramu

Nat Commun· November 2020

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Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer.
Alex H Wagner, Siddhartha Devarakonda, Zachary L Skidmore, Kilannin Krysiak, Avinash Ramu

Nat Commun· September 2018

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Dynamic landscape and regulation of RNA editing in mammals.
Meng How Tan, Qin Li, Raghuvaran Shanmugam, Robert Piskol, Jennefer Kohler, Avinash Ramu

Nature· October 2017

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CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer.
Malachi Griffith, Nicholas C Spies, Kilannin Krysiak, Joshua F McMichael, Adam C Coffman, Avinash Ramu

Nat Genet· January 2017

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Comprehensive genomic analysis reveals FLT3 activation and a therapeutic strategy for a patient with relapsed adult B-lymphoblastic leukemia.
Malachi Griffith, Obi L Griffith, Kilannin Krysiak, Zachary L Skidmore, Matthew J Christopher, Avinash Ramu

Exp Hematol· July 2016

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A Phase I Trial of BKM120 (Buparlisib) in Combination with Fulvestrant in Postmenopausal Women with Estrogen Receptor-Positive Metastatic Breast Cancer.
Cynthia X Ma, Jingqin Luo, Michael Naughton, Foluso Ademuyiwa, Rama Suresh, Avinash Ramu

Clin Cancer Res· April 2016

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Optimizing cancer genome sequencing and analysis.
Malachi Griffith, Christopher A Miller, Obi L Griffith, Kilannin Krysiak, Zachary L Skidmore, Avinash Ramu

Cell Syst· September 2015

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Genome Modeling System: A Knowledge Management Platform for Genomics.
Malachi Griffith, Obi L Griffith, Scott M Smith, Avinash Ramu, Matthew B Callaway

PLoS Comput Biol· July 2015

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Convergent loss of PTEN leads to clinical resistance to a PI(3)Kα inhibitor.
Dejan Juric, Pau Castel, Malachi Griffith, Obi L Griffith, Helen H Won, Avinash Ramu

Nature· February 2015

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DeNovoGear: de novo indel and point mutation discovery and phasing.
Avinash Ramu, Michiel J Noordam, Rachel S Schwartz, Arthur Wuster, Matthew E Hurles

Nat Methods· October 2013

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Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.
Alexandra M Lopes, Kenneth I Aston, Emma Thompson, Filipa Carvalho, João Gonçalves, Avinash Ramu

PLoS Genet· March 2013

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A scalable method for identifying frequent subtrees in sets of large phylogenetic trees.
Avinash Ramu, Tamer Kahveci, J Gordon Burleigh

BMC Bioinformatics· October 2012

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