Inventaire - teman dan komunitas anda adalah perpustakaan terbaik

IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis.

pengarang

Shujiro Okuda

2000 -

Shinji Saitoh

2000,1944 -

Daichi Shigemizu

Keith Boroevich

Kouichi Ozaki

Mitsuhiro Kato

Tatsuhiko Tsunoda

diterbitkan dalam: Scientific Reports

tanggal publikasi: 2018-04-04

bahasa: Inggris

Cites articles 28

Date

Judul

Pengarang

2016-06-18

SV-STAT accurately detects structural variation via alignment to reference-based assemblies

Caleb F Davis, Tsz-Kwong Man, Donna Muzny, David A. Wheeler, Richard A Gibbs, Deborah I Ritter
2015-12-07

ScanIndel: a hybrid framework for indel detection via gapped alignment, split reads and de novo assembly
2015-03-19

A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations

Shinji Saitoh, Keith Boroevich, Mitsuhiro Kato
2014-12-01

Comparison of insertion/deletion calling algorithms on human next-generation sequencing data
2014-08-17

Accurate de novo and transmitted indel detection in exome-capture data using microassembly

Michael C. Schatz, Michael Wigler
2014-07-13

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

Andrew Oliver Mungo Wilkie, Gerton Lunter, Stephen Twigg, Zamin Iqbal, Hang Phan
2014-02-13

Clinical whole-exome sequencing: are we there yet?

Paldeep S Atwal, Louanne Hudgins
2013-10-02

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

James R. Lupski, Richard A Gibbs, Donna Muzny, Christine M. Eng, Yaping Yang
2013-01-01

A practical method to detect SNVs and indels from whole genome and exome sequencing data

Keith Boroevich, Michiaki Kubo, Tatsuhiko Tsunoda, Akihiro Fujimoto, Mayuko Furuta, Hidewaki Nakagawa
2013-04

MAFFT Multiple Sequence Alignment Software Version 7: Improvements in Performance and Usability

Kazutaka Katoh
2012-09-12

SOAPindel: efficient identification of indels from short paired reads

Mikkel Heide Schierup, Jun Wang, Heng Li, Lars Bolund
2012-05-29

Exome sequencing and the genetic basis of complex traits

Nathan O Stitziel, Paul J. McLaren, Jennifer L. Moran, Patrik K E Magnusson, Paul Lichtenstein, Christina M. Hultman, Patrick F Sullivan, Pamela Sklar, Benjamin M. Neale, Shaun M Purcell, Alkes Price, Namrata Gupta, Thomas Lehner, Paul I W de Bakker, Shamil R Sunyaev
2012-07-31

PRISM: pair-read informed split-read mapping for base-pair level detection of insertion, deletion and structural variants

Michael Brudno
2011-12-18

Detection of structural variants and indels within exome data

Can Alkan, Kenneth Mark, Brian J O'Roak, Evan E. Eichler
2011-09-08

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

Heng Li
2011-04-01

Natural genetic variation caused by small insertions and deletions in the human genome

Chris Ponting, Julienne M. Mullaney, Ryan E. Mills
2010-09

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

David Altshuler, Kristian Cibulskis, Stacey Gabriel, Aaron McKenna, Mark Joseph Daly, Andrey Sivachenko, Eric Banks, Andrew Kernytsky, Mark DePristo
2010-01

Exome sequencing identifies the cause of a mendelian disorder

Jay Shendure, Ethylin Wang Jabs, Deborah A Nickerson, Michael J Bamshad, Abigail W Bigham, Kati J Buckingham, Holly K Tabor, Choli Lee
2009-10-27

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Murim Choi, Seza Özen
2009-06-26

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

Rolf Apweiler, Zemin Ning
2009-08-15

The Sequence Alignment/Map format and SAMtools

Richard M. Durbin, Heng Li, Gonçalo Abecasis, Jue Ruan
2009-07-15

Fast and accurate short read alignment with Burrows-Wheeler transform

Richard M. Durbin, Heng Li
2006-11-23

Global variation in copy number in the human genome

Xavier Estivill i Pallejà, Chris Tyler-Smith, Mònica Gratacòs, Daisuke Komura, Richard Redon, Juan R. González, Stephen W. Scherer, Armand Valsesia, Jeffrey R MacDonald, Lars Feuk, Jennifer L Freeman, Tatiana Zerjal, Hiroyuki Aburatani, Matthew Hurles, Donald F Conrad, Nigel Carter
2005-05-15

Fine-scale structural variation of the human genome

Evan E. Eichler, Eray Tuzun, Eric Haugen
2004-09

Detection of large-scale variation in the human genome

Stephen W. Scherer, Lars Feuk, A John Iafrate, Patricia K. Donahoe
2004-07-23

Large-scale copy number polymorphism in the human genome

Barbara Trask, Nick Patterson, Jonathan Sebat, Michael Wigler
1990

Rapid and sensitive sequence comparison with FASTP and FASTA
1985-03-22

Rapid and sensitive protein similarity searches

David J. Lipman

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