Systematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation.

Autor: Ramon Y Birnbaum, Rupali P Patwardhan, Mee J Kim, Gregory M Findlay, Beth Martin, Jingjing Zhao, Robert J A Bell, Robin P Smith, Angel A Ku, Jay Shendure, Nadav Ahituv

Publikováno v: PLoS Genetics, Vol 10, Iss 10, p e1004592 (2014)

In addition to their protein coding function, exons can also serve as transcriptional enhancers. Mutations in these exonic-enhancers (eExons) could alter both protein function and transcription. However, the functional consequence of eExon mutations

Externí odkaz: https://doaj.org/article/1bc49212af244252823c78c8dcedf49f

Massively parallel functional dissection of mammalian enhancers in vivo

Autor: Choli Lee, Robin P. Smith, Rupali P Patwardhan, Mee J. Kim, Jay Shendure, Joseph B. Hiatt, Len A. Pennacchio, Daniela Witten, Gregory M. Cooper, Dalit May, Jennifer M. Andrie, Su-In Lee, Nadav Ahituv

Publikováno v: Nature biotechnology, vol 30, iss 3
Nature biotechnology

The functional consequences of genetic variation in mammalian regulatory elements are poorly understood. We report the in vivo dissection of three mammalian liver enhancers at single nucleotide resolution via a massively parallelized reporter assay.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0e64e7ff7d5ff3e89e311b2aeff9d36
https://doi.org/10.1038/nbt.2136

Systematic dissection of coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation

Autor: Jay Shendure, Beth Martin, Ramon Y. Birnbaum, Angel A. Ku, Jingjing Zhao, Mee J. Kim, Gregory M. Findlay, Robert J.A. Bell, Nadav Ahituv, Robin P. Smith, Rupali P Patwardhan

Publikováno v: PLoS Genetics, Vol 10, Iss 10, p e1004592 (2014)
PLoS Genetics
Ahituv, Nadav; Birnbaum, RY; Patwardhan, RP; Kim, MJ; Findlay, GM; Martin, B; et al.(2014). Systematic Dissection of Coding Exons at Single Nucleotide Resolution Supports an Additional Role in Cell-Specific Transcriptional Regulation. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/3rf828p4

In addition to their protein coding function, exons can also serve as transcriptional enhancers. Mutations in these exonic-enhancers (eExons) could alter both protein function and transcription. However, the functional consequence of eExon mutations

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbd6d8a63b8d33ff0f2a300dcbfe7ee8
http://europepmc.org/articles/PMC4207465?pdf=render

Haplotype-resolved genome sequencing of a Gujarati Indian individual

Autor: Andrew Adey, Can Alkan, Alexandra P. MacKenzie, Rupali P Patwardhan, Sarah B. Ng, Ruolan Qiu, Jacob O. Kitzman, Jay Shendure, Joseph B. Hiatt, Peter H. Sudmant, Evan E. Eichler

Publikováno v: Nature biotechnology. 29(1)

Haplotype information is essential to the complete description and interpretation of genomes1, genetic diversity2 and genetic ancestry3. Although individual human genome sequencing is increasingly routine4, nearly all such genomes are unresolved with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::121fb5f3dc241edc54dc37d809cea577
https://pubmed.ncbi.nlm.nih.gov/21355116

An Approximate de Bruijn Graph Approach to Multiple Local Alignment and Motif Discovery in Protein Sequences

Autor: Mehmet Dalkilic, Haixu Tang, Sun Kim, Rupali P Patwardhan

Publikováno v: Data Mining and Bioinformatics ISBN: 9783540689706
VDMB

Motif discovery is an important problem in protein sequence analysis. Computationally, it can be viewed as an application of the more general multiple local alignment problem, which often encounters the difficulty of computer time when aligning many

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3cb2d28be49d267f201c4ba8108ed777
https://doi.org/10.1007/11960669_14