Literature DB >> 18518857

A SNP streak model for the identification of genetic regions identical-by-descent.

Gregory Leibon1, Daniel N Rockmore, Martin R Pollak.   

Abstract

The availability of very dense genetic maps is changing in a fundamental way the methods used to identify the genetic basis of both rare and common inherited traits. The ability to directly compare the genomes of two related individuals and quickly identify those regions that are inherited identical-by-descent (IBD) from a recent common ancestor would be of utility in a wide range of genetic mapping methods. Here, we describe a simple method for using dense SNP maps to identify regions of the genome likely to be inherited IBD by family members. This method is based on identifying obligate recombination events and examining the pattern of distribution of such events along the genetic map. Specifically, we use the length of a consecutive set of biallelic markers that have a high probability of having avoided such obligate recombination events. This ;;SNP streak" is derived from subsets of samples within a pedigree and allows us to make statistical inferences about the ancestry of the region(s) containing stretches of markers with these properties. We show that the use of subsets of more than two samples has the advantage of identifying shorter shared subsegments as significant. This mitigates the effects of errors in SNP calls. We provide specific examples of microarray-based SNP data, using a family with a complex pedigree and with a rare form of inherited kidney disease, to illustrate this approach.

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Year:  2008        PMID: 18518857      PMCID: PMC2825560          DOI: 10.2202/1544-6115.1340

Source DB:  PubMed          Journal:  Stat Appl Genet Mol Biol        ISSN: 1544-6115


  7 in total

1.  Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array.

Authors:  Hajime Matsuzaki; Halina Loi; Shoulian Dong; Ya-Yu Tsai; Joy Fang; Jane Law; Xiaojun Di; Wei-Min Liu; Geoffrey Yang; Guoying Liu; Jing Huang; Giulia C Kennedy; Thomas B Ryder; Gregory A Marcus; P Sean Walsh; Mark D Shriver; Jennifer M Puck; Keith W Jones; Rui Mei
Journal:  Genome Res       Date:  2004-03       Impact factor: 9.043

2.  The identity by descent process along the chromosome.

Authors:  Chris Cannings
Journal:  Hum Hered       Date:  2003       Impact factor: 0.444

3.  Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays.

Authors:  Hajime Matsuzaki; Shoulian Dong; Halina Loi; Xiaojun Di; Guoying Liu; Earl Hubbell; Jane Law; Tam Berntsen; Monica Chadha; Henry Hui; Geoffrey Yang; Giulia C Kennedy; Teresa A Webster; Simon Cawley; P Sean Walsh; Keith W Jones; Stephen P A Fodor; Rui Mei
Journal:  Nat Methods       Date:  2004-11       Impact factor: 28.547

4.  Shared genomic segment analysis. Mapping disease predisposition genes in extended pedigrees using SNP genotype assays.

Authors:  A Thomas; N J Camp; J M Farnham; K Allen-Brady; L A Cannon-Albright
Journal:  Ann Hum Genet       Date:  2007-12-18       Impact factor: 1.670

5.  Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients.

Authors:  Hitoshi Miyazawa; Masaaki Kato; Takuya Awata; Masakazu Kohda; Hiroyasu Iwasa; Nobuyuki Koyama; Tomoaki Tanaka; Shunei Kyo; Yasushi Okazaki; Koichi Hagiwara
Journal:  Am J Hum Genet       Date:  2007-05-02       Impact factor: 11.025

6.  Genomic mismatch scanning in pedigrees.

Authors:  A Thomas; M H Skolnick; C M Lewis
Journal:  IMA J Math Appl Med Biol       Date:  1994

7.  The probability that related individuals share some section of genome identical by descent.

Authors:  K P Donnelly
Journal:  Theor Popul Biol       Date:  1983-02       Impact factor: 1.570

  7 in total
  20 in total

1.  High-resolution detection of identity by descent in unrelated individuals.

Authors:  Sharon R Browning; Brian L Browning
Journal:  Am J Hum Genet       Date:  2010-03-18       Impact factor: 11.025

2.  A method and program for estimating graphical models for linkage disequilibrium that scale linearly with the number of loci, and their application to gene drop simulation.

Authors:  Alun Thomas
Journal:  Bioinformatics       Date:  2009-03-16       Impact factor: 6.937

3.  A method for detecting IBD regions simultaneously in multiple individuals--with applications to disease genetics.

Authors:  Ida Moltke; Anders Albrechtsen; Thomas V O Hansen; Finn C Nielsen; Rasmus Nielsen
Journal:  Genome Res       Date:  2011-04-14       Impact factor: 9.043

4.  A fast, powerful method for detecting identity by descent.

Authors:  Brian L Browning; Sharon R Browning
Journal:  Am J Hum Genet       Date:  2011-02-11       Impact factor: 11.025

5.  A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees.

Authors:  Mark Silberstein; Omer Weissbrod; Lars Otten; Anna Tzemach; Andrei Anisenia; Oren Shtark; Dvir Tuberg; Eddie Galfrin; Irena Gannon; Adel Shalata; Zvi U Borochowitz; Rina Dechter; Elizabeth Thompson; Dan Geiger
Journal:  Bioinformatics       Date:  2012-11-18       Impact factor: 6.937

6.  Optimized selection of unrelated subjects for whole-genome sequencing studies of rare high-penetrance alleles.

Authors:  Todd L Edwards; Chun Li
Journal:  Genet Epidemiol       Date:  2012-05-23       Impact factor: 2.135

Review 7.  The role of large pedigrees in an era of high-throughput sequencing.

Authors:  Ellen M Wijsman
Journal:  Hum Genet       Date:  2012-06-20       Impact factor: 4.132

8.  Improved IBD detection using incomplete haplotype information.

Authors:  Giulio Genovese; Gregory Leibon; Martin R Pollak; Daniel N Rockmore
Journal:  BMC Genet       Date:  2010-06-30       Impact factor: 2.797

9.  Shared genomic segment analysis: the power to find rare disease variants.

Authors:  Stacey Knight; Ryan P Abo; Haley J Abel; Deborah W Neklason; Therese M Tuohy; Randall W Burt; Alun Thomas; Nicola J Camp
Journal:  Ann Hum Genet       Date:  2012-09-19       Impact factor: 1.670

10.  Assessment of SNP streak statistics using gene drop simulation with linkage disequilibrium.

Authors:  Alun Thomas
Journal:  Genet Epidemiol       Date:  2010-02       Impact factor: 2.135

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