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| == Required Reading == | | == Required Reading == |
| + | |
| + | Browning SR, Browning BL (2007) Rapid and accurate haplotype phasing and |
| + | missing-data inference for whole-genome association studies by use of localized |
| + | haplotype clustering. ''Am J Hum Genet.'' '''81''':1084-97. PMID: 17924348 |
| + | |
| + | Coventry A, Bull-Otterson LM, Liu X, Clark AG, Maxwell TJ, Crosby J, Hixson |
| + | JE, Rea TJ, Muzny DM, Lewis LR, Wheeler DA, Sabo A, Lusk C, Weiss KG, Akbar H, |
| + | Cree A, Hawes AC, Newsham I, Varghese RT, Villasana D, Gross S, Joshi V, |
| + | Santibanez J, Morgan M, Chang K, Iv WH, Templeton AR, Boerwinkle E, Gibbs R, Sing |
| + | CF (2010) Deep resequencing reveals excess rare recent variants consistent with |
| + | explosive population growth. ''Nat Commun.'' '''1''':131. PMID: 21119644 |
| | | |
| Delaneau O, Zagury JF, Marchini J (2013) Improved whole-chromosome phasing for | | Delaneau O, Zagury JF, Marchini J (2013) Improved whole-chromosome phasing for |
− | disease and population genetic studies. Nat Methods. 10:5-6. PMID: 23269371 | + | disease and population genetic studies. ''Nat Methods.'' '''10''':5-6. PMID: 23269371 |
| + | |
| + | Howie B, Fuchsberger C, Stephens M, Marchini J, Abecasis GR (2012) Fast and accurate |
| + | genotype imputation in genome-wide association studies through pre-phasing. ''Nat |
| + | Genet.'' '''44''':955-9. PMID: 22820512 |
| + | |
| + | Iqbal Z, Caccamo M, Turner I, Flicek P, McVean G (2012) De novo assembly and |
| + | genotyping of variants using colored de Bruijn graphs. ''Nat Genet.'' '''44''':226-32. |
| + | PMID: 22231483 |
| | | |
| Jun G, Flickinger M, Hetrick KN, Romm JM, Doheny KF, Abecasis GR, Boehnke M, | | Jun G, Flickinger M, Hetrick KN, Romm JM, Doheny KF, Abecasis GR, Boehnke M, |
| Kang HM (2012) Detecting and estimating contamination of human DNA samples in | | Kang HM (2012) Detecting and estimating contamination of human DNA samples in |
− | sequencing and array-based genotype data. Am J Hum Genet. 91:839-48. PMID: | + | sequencing and array-based genotype data. ''Am J Hum Genet.'' '''91''':839-48. PMID: |
| 23103226 | | 23103226 |
| | | |
− | Howie B, Fuchsberger C, Stephens M, Marchini J, Abecasis GR (2012) Fast and accurate
| + | Li H, Ruan J, Durbin R (2008) Mapping short DNA sequencing reads and calling |
− | genotype imputation in genome-wide association studies through pre-phasing. Nat
| + | variants using mapping quality scores. ''Genome Res.'' '''18''':1851-8. PMID: 18714091 |
− | Genet. 44:955-9. PMID: 22820512
| |
| | | |
− | Iqbal Z, Caccamo M, Turner I, Flicek P, McVean G (2012) De novo assembly and
| + | Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler |
− | genotyping of variants using colored de Bruijn graphs. Nat Genet. 44:226-32.
| + | transform. ''Bioinformatics.'' '''25''':1754-60. PMID: 19451168 |
− | PMID: 22231483 | |
| | | |
| Li H, Durbin R (2011) Inference of human population history from individual | | Li H, Durbin R (2011) Inference of human population history from individual |
− | whole-genome sequences. Nature. 475:493-6. PMID: 21753753 | + | whole-genome sequences. ''Nature.'' '''475''':493-6. PMID: 21753753 |
− | | |
− | Wen X, Stephens M (2010) Using linear predictors to impute allele frequencies from
| |
− | summary or pooled genotype data. Ann Appl Stat. 4:1158-1182. PMID: 21479081
| |
− | | |
− | Coventry A, Bull-Otterson LM, Liu X, Clark AG, Maxwell TJ, Crosby J, Hixson
| |
− | JE, Rea TJ, Muzny DM, Lewis LR, Wheeler DA, Sabo A, Lusk C, Weiss KG, Akbar H,
| |
− | Cree A, Hawes AC, Newsham I, Varghese RT, Villasana D, Gross S, Joshi V,
| |
− | Santibanez J, Morgan M, Chang K, Iv WH, Templeton AR, Boerwinkle E, Gibbs R, Sing
| |
− | CF (2010) Deep resequencing reveals excess rare recent variants consistent with
| |
− | explosive population growth. Nat Commun. 1:131. PMID: 21119644
| |
| | | |
| Li Y, Willer CJ, Ding J, Scheet P, Abecasis GR (2010) MaCH: using sequence and | | Li Y, Willer CJ, Ding J, Scheet P, Abecasis GR (2010) MaCH: using sequence and |
− | genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol. | + | genotype data to estimate haplotypes and unobserved genotypes. ''Genet Epidemiol.'' |
− | 34:816-34. PMID: 21058334 | + | '''34''':816-34. PMID: 21058334 |
| | | |
| Lin DY, Zeng D (2010) Meta-analysis of genome-wide association studies: no | | Lin DY, Zeng D (2010) Meta-analysis of genome-wide association studies: no |
− | efficiency gain in using individual participant data. Genet Epidemiol. 34:60-6. | + | efficiency gain in using individual participant data. ''Genet Epidemiol.'' '''34''':60-6. |
| PMID: 19847795 | | PMID: 19847795 |
| | | |
− | Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler
| + | Wen X, Stephens M (2010) Using linear predictors to impute allele frequencies from |
− | transform. Bioinformatics. 25:1754-60. PMID: 19451168
| + | summary or pooled genotype data. ''Ann Appl Stat.'' '''4''':1158-1182. PMID: 21479081 |
− | | |
− | Li H, Ruan J, Durbin R (2008) Mapping short DNA sequencing reads and calling
| |
− | variants using mapping quality scores. Genome Res. 18:1851-8. PMID: 18714091
| |
| | | |
| Zerbino DR, Birney E (2008) Velvet: algorithms for de novo short read assembly | | Zerbino DR, Birney E (2008) Velvet: algorithms for de novo short read assembly |
− | using de Bruijn graphs. Genome Res. 18:821-9. PMID: 18349386 | + | using de Bruijn graphs. ''Genome Res.'' '''18''':821-9. PMID: 18349386 |
− | | |
− | Browning SR, Browning BL (2007) Rapid and accurate haplotype phasing and
| |
− | missing-data inference for whole-genome association studies by use of localized
| |
− | haplotype clustering. Am J Hum Genet. 81:1084-97. PMID: 17924348
| |
| | | |
| == Course History == | | == Course History == |
| | | |
| This course is an ad-hoc course, first taught by Goncalo Abecasis in the Fall of 2013. | | This course is an ad-hoc course, first taught by Goncalo Abecasis in the Fall of 2013. |