Literature DB >> 29943416

Efficient computation of the joint probability of multiple inherited risk alleles from pedigree data.

Thomas Madsen1,2, Danielle Braun1,2, Gang Peng3, Giovanni Parmigiani1,2, Lorenzo Trippa1,2.   

Abstract

The Elston-Stewart peeling algorithm enables estimation of an individual's probability of harboring germline risk alleles based on pedigree data, and serves as the computational backbone of important genetic counseling tools. However, it remains limited to the analysis of risk alleles at a small number of genetic loci because its computing time grows exponentially with the number of loci considered. We propose a novel, approximate version of this algorithm, dubbed the peeling and paring algorithm, which scales polynomially in the number of loci. This allows extending peeling-based models to include many genetic loci. The algorithm creates a trade-off between accuracy and speed, and allows the user to control this trade-off. We provide exact bounds on the approximation error and evaluate it in realistic simulations. Results show that the loss of accuracy due to the approximation is negligible in important applications. This algorithm will improve genetic counseling tools by increasing the number of pathogenic risk alleles that can be addressed. To illustrate we create an extended five genes version of BRCAPRO, a widely used model for estimating the carrier probabilities of BRCA1 and BRCA2 risk alleles and assess its computational properties.
© 2018 WILEY PERIODICALS, INC.

Entities:  

Keywords:  Mendelian risk prediction; family history; germline risk alleles; peeling algorithm

Mesh:

Substances:

Year:  2018        PMID: 29943416      PMCID: PMC6129424          DOI: 10.1002/gepi.22130

Source DB:  PubMed          Journal:  Genet Epidemiol        ISSN: 0741-0395            Impact factor:   2.135


  32 in total

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3.  A general model for the genetic analysis of pedigree data.

Authors:  R C Elston; J Stewart
Journal:  Hum Hered       Date:  1971       Impact factor: 0.444

4.  Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors.

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Journal:  J Genet Couns       Date:  2011-12-02       Impact factor: 2.537

5.  Risk of pancreatic cancer in families with Lynch syndrome.

Authors:  Fay Kastrinos; Bhramar Mukherjee; Nabihah Tayob; Fei Wang; Jennifer Sparr; Victoria M Raymond; Prathap Bandipalliam; Elena M Stoffel; Stephen B Gruber; Sapna Syngal
Journal:  JAMA       Date:  2009-10-28       Impact factor: 56.272

6.  Simplifying clinical use of the genetic risk prediction model BRCAPRO.

Authors:  Swati Biswas; Philamer Atienza; Jonathan Chipman; Kevin Hughes; Angelica M Gutierrez Barrera; Christopher I Amos; Banu Arun; Giovanni Parmigiani
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7.  BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients.

Authors:  Z Kote-Jarai; D Leongamornlert; E Saunders; M Tymrakiewicz; E Castro; N Mahmud; M Guy; S Edwards; L O'Brien; E Sawyer; A Hall; R Wilkinson; T Dadaev; C Goh; D Easton; D Goldgar; R Eeles
Journal:  Br J Cancer       Date:  2011-09-27       Impact factor: 7.640

Review 8.  Recent Enhancements to the Genetic Risk Prediction Model BRCAPRO.

Authors:  Emanuele Mazzola; Amanda Blackford; Giovanni Parmigiani; Swati Biswas
Journal:  Cancer Inform       Date:  2015-05-10

9.  Breast-cancer risk in families with mutations in PALB2.

Authors:  Antonis C Antoniou; Silvia Casadei; Tuomas Heikkinen; Daniel Barrowdale; Katri Pylkäs; Jonathan Roberts; Andrew Lee; Deepak Subramanian; Kim De Leeneer; Florentia Fostira; Eva Tomiak; Susan L Neuhausen; Zhi L Teo; Sofia Khan; Kristiina Aittomäki; Jukka S Moilanen; Clare Turnbull; Sheila Seal; Arto Mannermaa; Anne Kallioniemi; Geoffrey J Lindeman; Saundra S Buys; Irene L Andrulis; Paolo Radice; Carlo Tondini; Siranoush Manoukian; Amanda E Toland; Penelope Miron; Jeffrey N Weitzel; Susan M Domchek; Bruce Poppe; Kathleen B M Claes; Drakoulis Yannoukakos; Patrick Concannon; Jonine L Bernstein; Paul A James; Douglas F Easton; David E Goldgar; John L Hopper; Nazneen Rahman; Paolo Peterlongo; Heli Nevanlinna; Mary-Claire King; Fergus J Couch; Melissa C Southey; Robert Winqvist; William D Foulkes; Marc Tischkowitz
Journal:  N Engl J Med       Date:  2014-08-07       Impact factor: 91.245

10.  The BOADICEA model of genetic susceptibility to breast and ovarian cancer.

Authors:  A C Antoniou; P P D Pharoah; P Smith; D F Easton
Journal:  Br J Cancer       Date:  2004-10-18       Impact factor: 7.640

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  1 in total

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Journal:  Genet Epidemiol       Date:  2022-05-18       Impact factor: 2.344

  1 in total

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