Computational methods for transcriptome annotation and quantification using RNA-seq

M Garber, MG Grabherr, M Guttman, C Trapnell - Nature methods, 2011 - nature.com
High-throughput RNA sequencing (RNA-seq) promises a comprehensive picture of the
transcriptome, allowing for the complete annotation and quantification of all genes and their …

ChIP–seq: advantages and challenges of a maturing technology

PJ Park - Nature reviews genetics, 2009 - nature.com
Chromatin immunoprecipitation followed by sequencing (ChIP–seq) is a technique for
genome-wide profiling of DNA-binding proteins, histone modifications or nucleosomes …

Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

U Võsa, A Claringbould, HJ Westra, MJ Bonder… - Nature …, 2021 - nature.com
Trait-associated genetic variants affect complex phenotypes primarily via regulatory
mechanisms on the transcriptome. To investigate the genetics of gene expression, we …

Unraveling the polygenic architecture of complex traits using blood eQTL metaanalysis

U Võsa, A Claringbould, HJ Westra, MJ Bonder… - biorxiv, 2018 - biorxiv.org
While many disease-associated variants have been identified through genome-wide
association studies, their downstream molecular consequences remain unclear. To identify …

Ambit: In-memory accelerator for bulk bitwise operations using commodity DRAM technology

V Seshadri, D Lee, T Mullins, H Hassan… - Proceedings of the 50th …, 2017 - dl.acm.org
Many important applications trigger bulk bitwise operations, ie, bitwise operations on large
bit vectors. In fact, recent works design techniques that exploit fast bulk bitwise operations to …

Map** single molecule sequencing reads using basic local alignment with successive refinement (BLASR): application and theory

MJ Chaisson, G Tesler - BMC bioinformatics, 2012 - Springer
Background Recent methods have been developed to perform high-throughput sequencing
of DNA by Single Molecule Sequencing (SMS). While Next-Generation sequencing methods …

Analysis of 13 cell types reveals evidence for the expression of numerous novel primate-and tissue-specific microRNAs

E Londin, P Loher, AG Telonis, K Quann… - Proceedings of the …, 2015 - pnas.org
Two decades after the discovery of the first animal microRNA (miRNA), the number of
miRNAs in animal genomes remains a vexing question. Here, we report findings from …

Fast and accurate long-read alignment with Burrows–Wheeler transform

H Li, R Durbin - Bioinformatics, 2010 - academic.oup.com
Motivation: Many programs for aligning short sequencing reads to a reference genome have
been developed in the last 2 years. Most of them are very efficient for short reads but …

2b-RAD: a simple and flexible method for genome-wide genoty**

S Wang, E Meyer, JK McKay, MV Matz - Nature methods, 2012 - nature.com
We describe 2b-RAD, a streamlined restriction site–associated DNA (RAD) genoty**
method based on sequencing the uniform fragments produced by type IIB restriction …

Fast and SNP-tolerant detection of complex variants and splicing in short reads

TD Wu, S Nacu - Bioinformatics, 2010 - academic.oup.com
Motivation: Next-generation sequencing captures sequence differences in reads relative to a
reference genome or transcriptome, including splicing events and complex variants …