Literature DB >> 23975140

DeNovoGear: de novo indel and point mutation discovery and phasing.

Avinash Ramu1, Michiel J Noordam, Rachel S Schwartz, Arthur Wuster, Matthew E Hurles, Reed A Cartwright, Donald F Conrad.   

Abstract

We present DeNovoGear software for analyzing de novo mutations from familial and somatic tissue sequencing data. DeNovoGear uses likelihood-based error modeling to reduce the false positive rate of mutation discovery in exome analysis and fragment information to identify the parental origin of germ-line mutations. We used DeNovoGear on human whole-genome sequencing data to produce a set of predicted de novo insertion and/or deletion (indel) mutations with a 95% validation rate.

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Year:  2013        PMID: 23975140      PMCID: PMC4003501          DOI: 10.1038/nmeth.2611

Source DB:  PubMed          Journal:  Nat Methods        ISSN: 1548-7091            Impact factor:   28.547


  17 in total

1.  Dindel: accurate indel calls from short-read data.

Authors:  Cornelis A Albers; Gerton Lunter; Daniel G MacArthur; Gilean McVean; Willem H Ouwehand; Richard Durbin
Journal:  Genome Res       Date:  2010-10-27       Impact factor: 9.043

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

Authors:  Heng Li
Journal:  Bioinformatics       Date:  2011-09-08       Impact factor: 6.937

3.  Variation in genome-wide mutation rates within and between human families.

Authors:  Donald F Conrad; Jonathan E M Keebler; Mark A DePristo; Sarah J Lindsay; Yujun Zhang; Ferran Casals; Youssef Idaghdour; Chris L Hartl; Carlos Torroja; Kiran V Garimella; Martine Zilversmit; Reed Cartwright; Guy A Rouleau; Mark Daly; Eric A Stone; Matthew E Hurles; Philip Awadalla
Journal:  Nat Genet       Date:  2011-06-12       Impact factor: 38.330

4.  Analysis of genetic inheritance in a family quartet by whole-genome sequencing.

Authors:  Jared C Roach; Gustavo Glusman; Arian F A Smit; Chad D Huff; Robert Hubley; Paul T Shannon; Lee Rowen; Krishna P Pant; Nathan Goodman; Michael Bamshad; Jay Shendure; Radoje Drmanac; Lynn B Jorde; Leroy Hood; David J Galas
Journal:  Science       Date:  2010-03-10       Impact factor: 47.728

5.  A family-based probabilistic method for capturing de novo mutations from high-throughput short-read sequencing data.

Authors:  Reed A Cartwright; Julie Hussin; Jonathan E M Keebler; Eric A Stone; Philip Awadalla
Journal:  Stat Appl Genet Mol Biol       Date:  2012-01-06

6.  A genome-wide view of the spectrum of spontaneous mutations in yeast.

Authors:  Michael Lynch; Way Sung; Krystalynne Morris; Nicole Coffey; Christian R Landry; Erik B Dopman; W Joseph Dickinson; Kazufusa Okamoto; Shilpa Kulkarni; Daniel L Hartl; W Kelley Thomas
Journal:  Proc Natl Acad Sci U S A       Date:  2008-06-26       Impact factor: 11.205

7.  Origins and functional impact of copy number variation in the human genome.

Authors:  Donald F Conrad; Dalila Pinto; Richard Redon; Lars Feuk; Omer Gokcumen; Yujun Zhang; Jan Aerts; T Daniel Andrews; Chris Barnes; Peter Campbell; Tomas Fitzgerald; Min Hu; Chun Hwa Ihm; Kati Kristiansson; Daniel G Macarthur; Jeffrey R Macdonald; Ifejinelo Onyiah; Andy Wing Chun Pang; Sam Robson; Kathy Stirrups; Armand Valsesia; Klaudia Walter; John Wei; Chris Tyler-Smith; Nigel P Carter; Charles Lee; Stephen W Scherer; Matthew E Hurles
Journal:  Nature       Date:  2009-10-07       Impact factor: 49.962

8.  The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process.

Authors:  Verena Heinrich; Jens Stange; Thorsten Dickhaus; Peter Imkeller; Ulrike Krüger; Sebastian Bauer; Stefan Mundlos; Peter N Robinson; Jochen Hecht; Peter M Krawitz
Journal:  Nucleic Acids Res       Date:  2011-11-29       Impact factor: 16.971

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

Authors:  Mark A DePristo; Eric Banks; Ryan Poplin; Kiran V Garimella; Jared R Maguire; Christopher Hartl; Anthony A Philippakis; Guillermo del Angel; Manuel A Rivas; Matt Hanna; Aaron McKenna; Tim J Fennell; Andrew M Kernytsky; Andrey Y Sivachenko; Kristian Cibulskis; Stacey B Gabriel; David Altshuler; Mark J Daly
Journal:  Nat Genet       Date:  2011-04-10       Impact factor: 38.330

10.  A macaque's-eye view of human insertions and deletions: differences in mechanisms.

Authors:  Erika M Kvikstad; Svitlana Tyekucheva; Francesca Chiaromonte; Kateryna D Makova
Journal:  PLoS Comput Biol       Date:  2007-07-27       Impact factor: 4.475

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  79 in total

1.  Joint detection of copy number variations in parent-offspring trios.

Authors:  Yongzhuang Liu; Jian Liu; Jianguo Lu; Jiajie Peng; Liran Juan; Xiaolin Zhu; Bingshan Li; Yadong Wang
Journal:  Bioinformatics       Date:  2015-12-07       Impact factor: 6.937

Review 2.  Detecting Somatic Mutations in Normal Cells.

Authors:  Yanmei Dou; Heather D Gold; Lovelace J Luquette; Peter J Park
Journal:  Trends Genet       Date:  2018-05-03       Impact factor: 11.639

3.  Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.

Authors:  Gloria Negri; Pamela Magini; Donatella Milani; Milena Crippa; Elisa Biamino; Maria Piccione; Stefano Sotgiu; Chiara Perrìa; Giuseppina Vitiello; Marina Frontali; Antonella Boni; Elisabetta Di Fede; Maria Chiara Gandini; Elisa Adele Colombo; Michael J Bamshad; Deborah A Nickerson; Joshua D Smith; Italia Loddo; Palma Finelli; Marco Seri; Tommaso Pippucci; Lidia Larizza; Cristina Gervasini
Journal:  Hum Genet       Date:  2019-02-26       Impact factor: 4.132

4.  Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.

Authors:  A M Slavotinek; S T Garcia; G Chandratillake; T Bardakjian; E Ullah; D Wu; K Umeda; R Lao; P L-F Tang; E Wan; L Madireddy; S Lyalina; B A Mendelsohn; S Dugan; J Tirch; R Tischler; J Harris; M J Clark; S Chervitz; A Patwardhan; J M West; P Ursell; A de Alba Campomanes; A Schneider; P-Y Kwok; S Baranzini; R O Chen
Journal:  Clin Genet       Date:  2015-01-06       Impact factor: 4.438

5.  A Bayesian framework for de novo mutation calling in parents-offspring trios.

Authors:  Qiang Wei; Xiaowei Zhan; Xue Zhong; Yongzhuang Liu; Yujun Han; Wei Chen; Bingshan Li
Journal:  Bioinformatics       Date:  2014-12-21       Impact factor: 6.937

6.  Distinct error rates for reference and nonreference genotypes estimated by pedigree analysis.

Authors:  Richard J Wang; Predrag Radivojac; Matthew W Hahn
Journal:  Genetics       Date:  2021-03-03       Impact factor: 4.562

7.  Linked-read analysis identifies mutations in single-cell DNA-sequencing data.

Authors:  Craig L Bohrson; Alison R Barton; Michael A Lodato; Rachel E Rodin; Lovelace J Luquette; Vinay V Viswanadham; Doga C Gulhan; Isidro Cortés-Ciriano; Maxwell A Sherman; Minseok Kwon; Michael E Coulter; Alon Galor; Christopher A Walsh; Peter J Park
Journal:  Nat Genet       Date:  2019-03-18       Impact factor: 38.330

8.  A gradient-boosting approach for filtering de novo mutations in parent-offspring trios.

Authors:  Yongzhuang Liu; Bingshan Li; Renjie Tan; Xiaolin Zhu; Yadong Wang
Journal:  Bioinformatics       Date:  2014-03-10       Impact factor: 6.937

9.  Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.

Authors:  E Ullah; D Wu; L Madireddy; R Lao; P Ling-Fung Tang; E Wan; T Bardakjian; S Kopinsky; P-Y Kwok; A Schneider; S Baranzini; M Ansar; A Slavotinek
Journal:  Ophthalmic Genet       Date:  2016-09-23       Impact factor: 1.803

10.  SET de novo frameshift variants associated with developmental delay and intellectual disabilities.

Authors:  Ruth Richardson; Miranda Splitt; Ruth Newbury-Ecob; Alice Hulbert; Joanna Kennedy; Astrid Weber
Journal:  Eur J Hum Genet       Date:  2018-06-15       Impact factor: 4.246

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