NGS-pipe: a flexible, easily extendable and highly configurable framework for NGS analysis

نویسندگان

  • Jochen Singer
  • Hans-Joachim Ruscheweyh
  • Ariane L. Hofmann
  • Thomas Thurnherr
  • Franziska Singer
  • Nora C. Toussaint
  • Charlotte K. Y. Ng
  • Salvatore Piscuoglio
  • Christian Beisel
  • Gerhard Christofori
  • Reinhard Dummer
  • Michael N. Hall
  • Wilhelm Krek
  • Mitchell P. Levesque
  • Markus G. Manz
  • Holger Moch
  • Andreas Papassotiropoulos
  • Daniel J. Stekhoven
  • Peter Wild
  • Thomas Wüst
  • Bernd Rinn
  • Niko Beerenwinkel
چکیده

Motivation Next-generation sequencing is now an established method in genomics, and massive amounts of sequencing data are being generated on a regular basis. Analysis of the sequencing data is typically performed by lab-specific in-house solutions, but the agreement of results from different facilities is often small. General standards for quality control, reproducibility and documentation are missing. Results We developed NGS-pipe, a flexible, transparent and easy-to-use framework for the design of pipelines to analyze whole-exome, whole-genome and transcriptome sequencing data. NGS-pipe facilitates the harmonization of genomic data analysis by supporting quality control, documentation, reproducibility, parallelization and easy adaptation to other NGS experiments. Availability and implementation https://github.com/cbg-ethz/NGS-pipe. Contact [email protected].

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Strategies and Clinical Applications of Next Generation Sequencing

Abstract DNA sequencing is one of the great valuable techniques in molecular biology, which can be used to detect the sequence of nucleotides in a DNA fragment. The high-throughput se­quencing known as Next Generation Sequencing (NGS) revolutionized genomic research and molecular biology; therefore, the whole human genome can be sequenced with a low cost in several days. NGS technology is simi...

متن کامل

توالی یابی نسل جدید (NGS) روشی برای شناسایی جهش های ژنتیکی مرتبط با اختلال اسپینابیفیدا

Background and Objective: Spina Bifida (SB) is a congenital malformation and is a result of the failure of the closure and failure of the neural tube. The causes and mechanisms of genetic involvement involved in the onset of SB are still ambiguous. The present study addresses the genetic variation in SB disease using Next Generation Sequencing (NGS) as a powerful molecular tool for comprehensiv...

متن کامل

P-239: NGS Mapping Breakpoints of a Familial Chromosome Insertion (18:7) (q22.1; q36.2 q21.11) to DPP6 and CACNA2D1 Genes in An Azoospermic Man

Background: Aberrant chromosomes can cause azoospermia but little is known about its molecular mechanism. Our aim is to explore any possible genetic defective to explain a given male infertility. Materials and Methods: An azoopsermic male was identified in a 23 years old male. G-banding and FISH confirmed the karyotype as chromosome insertion (18:7) (q22.1; q36.2q21.11). NGS was performed to an...

متن کامل

Flexible piezoelectric nanogenerators based on fiber/ ZnO nanowires/ paper hybrid structure for energy harvesting

We present a novel, low-cost approach to fabricate flexible piezoelectric nanogenerators (NGs) consisting of ZnO nanowires (NWs) on carbon fibers and foldable Au-coated ZnO NWs on paper. By using such designed structure of the NGs, the radial ZnO NWs on a cylindrical fiber can be utilized fully and the electric output of NG is improved. The electric output behavior of the NGs can be optionally ...

متن کامل

Strategies and Clinical Applications of Next Generation Sequencing

Abstract DNA sequencing is one of the great valuable techniques in molecular biology, which can be used to detect the sequence of nucleotides in a DNA fragment. The high-throughput se­quencing known as Next Generation Sequencing (NGS) revolutionized genomic research and molecular biology; therefore, the whole human genome can be sequenced with a low cost in several days. NGS technology is simi...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره 34  شماره 

صفحات  -

تاریخ انتشار 2018