Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair

A framework for variation discovery and genotyping using next-generation DNA sequencing data

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A semi-automated non-radioactive system for measuring recovery of RNA synthesis and unscheduled DNA synthesis using ethynyluracil derivatives

(2010) Yuka Nakazawa et al.   DNA REPAIR

VHS domains of ESCRT-0 cooperate in high-avidity binding to polyubiquitinated cargo

(2010) Xuefeng Ren et al.   EMBO JOURNAL

Dindel: Accurate indel calls from short-read data

(2010) C. A. Albers et al.   GENOME RESEARCH

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Protein structure prediction on the Web: a case study using the Phyre server

(2009) Lawrence A Kelley et al.   Nature Protocols

Ubiquitin-binding domains — from structures to functions

(2009) Ivan Dikic et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU)

(2009) S. Limsirichaikul et al.   NUCLEIC ACIDS RESEARCH

A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage

(2009) T. Nardo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transcription-coupled DNA repair: two decades of progress and surprises

(2008) Philip C. Hanawalt et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY