This repository has been archived by the owner on Oct 12, 2018. It is now read-only.
-
Notifications
You must be signed in to change notification settings - Fork 4
/
varcmp.bib
420 lines (367 loc) · 12 KB
/
varcmp.bib
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
56
57
58
59
60
61
62
63
64
65
66
67
68
69
70
71
72
73
74
75
76
77
78
79
80
81
82
83
84
85
86
87
88
89
90
91
92
93
94
95
96
97
98
99
100
101
102
103
104
105
106
107
108
109
110
111
112
113
114
115
116
117
118
119
120
121
122
123
124
125
126
127
128
129
130
131
132
133
134
135
136
137
138
139
140
141
142
143
144
145
146
147
148
149
150
151
152
153
154
155
156
157
158
159
160
161
162
163
164
165
166
167
168
169
170
171
172
173
174
175
176
177
178
179
180
181
182
183
184
185
186
187
188
189
190
191
192
193
194
195
196
197
198
199
200
201
202
203
204
205
206
207
208
209
210
211
212
213
214
215
216
217
218
219
220
221
222
223
224
225
226
227
228
229
230
231
232
233
234
235
236
237
238
239
240
241
242
243
244
245
246
247
248
249
250
251
252
253
254
255
256
257
258
259
260
261
262
263
264
265
266
267
268
269
270
271
272
273
274
275
276
277
278
279
280
281
282
283
284
285
286
287
288
289
290
291
292
293
294
295
296
297
298
299
300
301
302
303
304
305
306
307
308
309
310
311
312
313
314
315
316
317
318
319
320
321
322
323
324
325
326
327
328
329
330
331
332
333
334
335
336
337
338
339
340
341
342
343
344
345
346
347
348
349
350
351
352
353
354
355
356
357
358
359
360
361
362
363
364
365
366
367
368
369
370
371
372
373
374
375
376
377
378
379
380
381
382
383
384
385
386
387
388
389
390
391
392
393
394
395
396
397
398
399
400
401
402
403
404
405
406
407
408
409
410
411
412
413
414
415
416
417
418
419
420
@article{Jacobs:1980aa,
Author = {Jacobs, P A and others},
Journal = {Nature},
Pages = {714-6},
Title = {Mechanism of origin of complete hydatidiform moles},
Volume = {286},
Year = {1980}}
@article{Langmead:2012fk,
Author = {Langmead, Ben and Salzberg, Steven L},
Journal = {Nat Methods},
Pages = {357-9},
Title = {Fast gapped-read alignment with {Bowtie 2}},
Volume = {9},
Year = {2012}}
@article{Li:2013aa,
Author = {Li, Heng},
Journal = {arXiv:1303.3997},
Title = {Aligning sequence reads, clone sequences and assembly contigs with {BWA-MEM}},
Year = {2013}}
@article{Paten:2014aa,
Author = {Paten, Benedict and others},
Journal = {arXiv:1404.5010},
Title = {Mapping to a Reference Genome Structure},
Year = {2014}}
@article{Narzisi:2014aa,
author = {Giuseppe Narzisi and others},
title = {Accurate detection of de novo and transmitted INDELs within exome-capture data using micro-assembly},
year = {2014},
doi = {10.1101/001370},
URL = {http://biorxiv.org/content/early/2014/04/15/001370},
eprint = {http://biorxiv.org/content/early/2014/04/15/001370.full.pdf},
journal = {bioRxiv}
}
@article{Talwalkar:2013aa,
Author = {Ameet Talwalkar and others},
Journal = {arXiv:1310.8420},
Title = {{SMaSH}: A Benchmarking Toolkit for Human Genome Variant Calling},
Year = {2013}}
@article{Li:2009uq,
Author = {Li, Heng and Durbin, Richard},
Journal = {Bioinformatics},
Pages = {1754-60},
Title = {Fast and accurate short read alignment with Burrows-Wheeler transform},
Volume = {25},
Year = {2009}}
@article{Depristo:2011vn,
Author = {Depristo, Mark A and others},
Journal = {Nat Genet},
Pages = {491-8},
Title = {A framework for variation discovery and genotyping using next-generation DNA sequencing data},
Volume = {43},
Year = {2011}}
@article{Li:2011ab,
Author = {Li, Heng},
Journal = {Bioinformatics},
Pages = {2987-93},
Title = {A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data},
Volume = {27},
Year = {2011}}
@article{1000g:2012aa,
Author = {{1000 Genomes Project Consortium}},
Journal = {Nature},
Pages = {56-65},
Title = {An integrated map of genetic variation from 1,092 human genomes},
Volume = {491},
Year = {2012}}
@article{Garrison:2012aa,
Author = {Garrison, Erik and Marth, Gabor},
Journal = {arXiv:1207.3907},
Title = {Haplotype-based variant detection from short-read sequencing},
Year = {2012}}
@article{Olshen:2004aa,
Author = {Olshen, Adam B and others},
Journal = {Biostatistics},
Pages = {557-72},
Title = {Circular binary segmentation for the analysis of array-based DNA copy number data},
Volume = {5},
Year = {2004}}
@article{Gymrek:2012aa,
Author = {Gymrek, Melissa and others},
Journal = {Genome Res},
Pages = {1154-62},
Title = {{lobSTR}: A short tandem repeat profiler for personal genomes},
Volume = {22},
Year = {2012}}
@article{Conrad:2011kx,
Author = {Conrad, Donald F and others},
Journal = {Nat Genet},
Pages = {712-714},
Title = {Variation in genome-wide mutation rates within and between human families},
Volume = {43},
Year = {2011}}
@article{Li:2012fk,
Author = {Li, Heng},
Journal = {Bioinformatics},
Pages = {1838-44},
Title = {Exploring single-sample {SNP} and {INDEL} calling with whole-genome de novo assembly},
Volume = {28},
Year = {2012}}
@article{Zerbino:2008uq,
Author = {Zerbino, Daniel R and Birney, Ewan},
Journal = {Genome Res},
Pages = {821-9},
Title = {Velvet: algorithms for de novo short read assembly using {de Bruijn} graphs},
Volume = {18},
Year = {2008}}
@article{Levy:2007uq,
Author = {Levy, Samuel and others},
Journal = {PLoS Biol},
Pages = {e254},
Title = {The diploid genome sequence of an individual human},
Volume = {5},
Year = {2007}}
@article{Bentley:2008cr,
Author = {Bentley, David R and others},
Journal = {Nature},
Pages = {53-9},
Title = {Accurate whole human genome sequencing using reversible terminator chemistry},
Volume = {456},
Year = {2008}}
@article{Wang:2008nx,
Author = {Wang, Jun and others},
Journal = {Nature},
Pages = {60-5},
Title = {The diploid genome sequence of an {Asian} individual},
Volume = {456},
Year = {2008}}
@article{Watson:2013aa,
Author = {Watson, Ian R and others},
Journal = {Nat Rev Genet},
Pages = {703-18},
Title = {Emerging patterns of somatic mutations in cancer},
Volume = {14},
Year = {2013}}
@article{Campbell:2013aa,
Author = {Campbell, Catarina D and Eichler, Evan E},
Journal = {Trends Genet},
Pages = {575-84},
Title = {Properties and rates of germline mutations in humans},
Volume = {29},
Year = {2013}}
@article{Li:2011ij,
Author = {Li, Heng and Durbin, Richard},
Journal = {Nature},
Pages = {493-6},
Title = {Inference of human population history from individual whole-genome sequences},
Volume = {475},
Year = {2011}}
@article{Bamshad:2011aa,
Author = {Bamshad, Michael J and others},
Journal = {Nat Rev Genet},
Pages = {745-55},
Title = {Exome sequencing as a tool for {Mendelian} disease gene discovery},
Volume = {12},
Year = {2011}}
@article{Zook:2014aa,
Author = {Zook, Justin M and others},
Journal = {Nat Biotechnol},
Title = {Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls},
Year = {2014}}
@article{Harismendy:2009aa,
Author = {Harismendy, Olivier and others},
Journal = {Genome Biol},
Pages = {R32},
Title = {Evaluation of next generation sequencing platforms for population targeted sequencing studies},
Volume = {10},
Year = {2009}}
@article{Lam:2012aa,
Author = {Lam, Hugo Y K and others},
Journal = {Nat Biotechnol},
Pages = {226-9},
Title = {Detecting and annotating genetic variations using the {HugeSeq} pipeline},
Volume = {30},
Year = {2012}}
@article{Boland:2013aa,
Author = {Boland, Joseph F and others},
Journal = {Hum Genet},
Pages = {1153-63},
Title = {The new sequencer on the block: comparison of {Life Technology}'s {Proton} sequencer to an {Illumina} {HiSeq} for whole-exome sequencing},
Volume = {132},
Year = {2013}}
@article{Clark:2011aa,
Author = {Clark, Michael J and others},
Journal = {Nat Biotechnol},
Pages = {908-14},
Title = {Performance comparison of exome {DNA} sequencing technologies},
Volume = {29},
Year = {2011}}
@article{Lam:2012fk,
Author = {Lam, Hugo Y K and others},
Journal = {Nat Biotechnol},
Pages = {78-82},
Title = {Performance comparison of whole-genome sequencing platforms},
Volume = {30},
Year = {2012}}
@article{Loman:2012aa,
Author = {Loman, Nicholas J and others},
Journal = {Nat Biotechnol},
Pages = {434-9},
Title = {Performance comparison of benchtop high-throughput sequencing platforms},
Volume = {30},
Year = {2012}}
@article{Nickles:2012aa,
Author = {Nickles, Dorothee and others},
Journal = {BMC Genomics},
Pages = {477},
Title = {In depth comparison of an individual's {DNA} and its lymphoblastoid cell line using whole genome sequencing},
Volume = {13},
Year = {2012}}
@article{ORawe:2013aa,
Author = {O'Rawe, Jason and others},
Journal = {Genome Med},
Pages = {28},
Title = {Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing},
Volume = {5},
Year = {2013}}
@article{Veltman:2012aa,
Author = {Veltman, Joris A and Brunner, Han G},
Journal = {Nat Rev Genet},
Pages = {565-75},
Title = {De novo mutations in human genetic disease},
Volume = {13},
Year = {2012}}
@article{Liu:2013aa,
Author = {Liu, Xiangtao and others},
Journal = {PLoS One},
Pages = {e75619},
Title = {Variant callers for next-generation sequencing data: a comparison study},
Volume = {8},
Year = {2013}}
@article{Li:2008zr,
Author = {Li, Heng and others},
Journal = {Genome Res},
Pages = {1851-8},
Title = {Mapping short {DNA} sequencing reads and calling variants using mapping quality scores},
Volume = {18},
Year = {2008}}
@article{Li:2010kx,
Author = {Li, Heng and others},
Journal = {Brief Bioinform},
Pages = {473-83},
Title = {A survey of sequence alignment algorithms for next-generation sequencing},
Volume = {11},
Year = {2010}}
@article{Bolosky:2014aa,
Author = {William J. Bolosky and others},
Journal = {Unpublished},
Title = {{SNAP}: fast, accurate sequence alignment enabling biological applications},
Year = {2014}}
@article{Li:2013ab,
Author = {Li, Shengting and others},
Journal = {Genome Res},
Pages = {195-200},
Title = {{SOAPindel}: efficient identification of indels from short paired reads},
Volume = {23},
Year = {2013}}
@article{Li:2011ac,
Author = {Li, Mingyao and others},
Journal = {Science},
Pages = {53-8},
Title = {Widespread {RNA} and {DNA} sequence differences in the human transcriptome},
Volume = {333},
Year = {2011}}
@article{Pickrell:2012aa,
Author = {Pickrell, Joseph K and others},
Journal = {Science},
Pages = {1302},
Title = {Comment on ``Widespread {RNA} and {DNA} sequence differences in the human transcriptome''},
Volume = {335},
Year = {2012}}
@article{Lin:2012aa,
Author = {Lin, Wei and others},
Journal = {Science},
Pages = {1302; author reply 1302},
Title = {Comment on ``Widespread {RNA} and {DNA} sequence differences in the human transcriptome''},
Volume = {335},
Year = {2012}}
@article{Kleinman:2012aa,
Author = {Kleinman, Claudia L and Majewski, Jacek},
Journal = {Science},
Pages = {1302; author reply 1302},
Title = {Comment on ``Widespread {RNA} and {DNA} sequence differences in the human transcriptome''},
Volume = {335},
Year = {2012}}
@article{Larson:2012aa,
Author = {Larson, David E and others},
Journal = {Bioinformatics},
Pages = {311-7},
Title = {{SomaticSniper}: identification of somatic point mutations in whole genome sequencing data},
Volume = {28},
Year = {2012}}
@article{Lower:2012aa,
Author = {L{\"o}wer, Martin and others},
Journal = {PLoS Comput Biol},
Pages = {e1002714},
Title = {Confidence-based somatic mutation evaluation and prioritization},
Volume = {8},
Year = {2012}}
@article{Goode:2013aa,
Author = {Goode, David L and others},
Journal = {Genome Med},
Pages = {90},
Title = {A simple consensus approach improves somatic mutation prediction accuracy},
Volume = {5},
Year = {2013}}
@article{Roberts:2013aa,
Author = {Roberts, Nicola D and others},
Journal = {Bioinformatics},
Pages = {2223-30},
Title = {A comparative analysis of algorithms for somatic SNV detection in cancer},
Volume = {29},
Year = {2013}}
@article{Kim:2013aa,
Author = {Kim, Su Yeon and Speed, Terence P},
Journal = {BMC Bioinformatics},
Pages = {189},
Title = {Comparing somatic mutation-callers: beyond {Venn} diagrams},
Volume = {14},
Year = {2013}}
@article{Robasky:2014aa,
Author = {Robasky, Kimberly and others},
Journal = {Nat Rev Genet},
Pages = {56-62},
Title = {The role of replicates for error mitigation in next-generation sequencing},
Volume = {15},
Year = {2014}}
@article{Li:2011kx,
Author = {Li, Heng},
Journal = {Bioinformatics},
Pages = {1157-8},
Title = {Improving {SNP} discovery by base alignment quality},
Volume = {27},
Year = {2011}}
@article{Albers:2011aa,
Author = {Albers, Cornelis A and others},
Journal = {Genome Res},
Pages = {961-73},
Title = {Dindel: accurate indel calls from short-read data},
Volume = {21},
Year = {2011}}
@article{Homer:2010aa,
Author = {Homer, Nils and Nelson, Stanley F},
Journal = {Genome Biol},
Pages = {R99},
Title = {Improved variant discovery through local re-alignment of short-read next-generation sequencing data using {SRMA}},
Volume = {11},
Year = {2010}}
@article{DBLP:journals/corr/abs-1010-2656,
Author = {Jouni Sir{\'e}n and others},
Journal = {CoRR},
Title = {Indexing Finite Language Representation of Population Genotypes},
Volume = {abs/1010.2656},
Year = {2010}}
@article{Cheng:2014aa,
Author = {Cheng, Anthony Youzhi and others},
Journal = {Bioinformatics},
Month = {Feb},
Title = {Assessing single nucleotide variant detection and genotype calling on whole-genome sequenced individuals},
Year = {2014}}
@article{Nakamura:2011aa,
Author = {Nakamura, Kensuke and others},
Journal = {Nucleic Acids Res},
Month = {Jul},
Pages = {e90},
Title = {Sequence-specific error profile of Illumina sequencers},
Volume = {39},
Year = {2011}}