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Fiona Hyland
Fiona Hyland
Director of Bioinformatics, Thermo Fisher Scientific
在 thermofisher.com 的电子邮件经过验证
标题
引用次数
引用次数
年份
A global reference for human genetic variation
1000 Genomes Project Consortium
Nature 526 (7571), 68, 2015
132312015
The variant call format and VCFtools
P Danecek, A Auton, G Abecasis, CA Albers, E Banks, MA DePristo, ...
Bioinformatics 27 (15), 2156-2158, 2011
112972011
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
84632010
An integrated map of structural variation in 2,504 human genomes
PH Sudmant, T Rausch, EJ Gardner, RE Handsaker, A Abyzov, ...
Nature 526 (7571), 75-81, 2015
21922015
A systematic survey of loss-of-function variants in human protein-coding genes
DG MacArthur, S Balasubramanian, A Frankish, N Huang, J Morris, ...
Science 335 (6070), 823-828, 2012
13072012
Mapping copy number variation by population-scale genome sequencing
RE Mills, K Walter, C Stewart, RE Handsaker, K Chen, C Alkan, A Abyzov, ...
Nature 470 (7332), 59-65, 2011
12232011
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding
KJ McKernan, HE Peckham, GL Costa, SF McLaughlin, Y Fu, EF Tsung, ...
Genome research 19 (9), 1527-1541, 2009
7762009
Diversity of human copy number variation and multicopy genes
PH Sudmant, JO Kitzman, F Antonacci, C Alkan, M Malig, A Tsalenko, ...
Science 330 (6004), 641-646, 2010
7482010
Variation in genome-wide mutation rates within and between human families
Nature genetics 43 (7), 712-714, 2011
6662011
Demographic history and rare allele sharing among human populations
S Gravel, BM Henn, RN Gutenkunst, AR Indap, GT Marth, AG Clark, F Yu, ...
Proceedings of the National Academy of Sciences 108 (29), 11983-11988, 2011
6582011
Extensive sequencing of seven human genomes to characterize benchmark reference materials
JM Zook, D Catoe, J McDaniel, L Vang, N Spies, A Sidow, Z Weng, Y Liu, ...
Scientific data 3 (1), 1-26, 2016
6072016
Classic selective sweeps were rare in recent human evolution
RD Hernandez, JL Kelley, E Elyashiv, SC Melton, A Auton, G McVean, ...
science 331 (6019), 920-924, 2011
5142011
Progress in ion torrent semiconductor chip based sequencing
B Merriman, IT R&D Team, JM Rothberg
Electrophoresis 33 (23), 3397-3417, 2012
4482012
Large scale real-time PCR validation on gene expression measurements from two commercial long-oligonucleotide microarrays
Y Wang, C Barbacioru, F Hyland, W Xiao, KL Hunkapiller, J Blake, F Chan, ...
BMC genomics 7, 1-16, 2006
3582006
A second-generation combined linkage–physical map of the human genome
TC Matise, F Chen, W Chen, M Francisco, M Hansen, C He, FCL Hyland, ...
Genome research 17 (12), 1783-1786, 2007
3452007
Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences
GD Poznik, Y Xue, FL Mendez, TF Willems, A Massaia, MA Wilson Sayres, ...
Nature genetics 48 (6), 593-599, 2016
3252016
Establishing guidelines to harmonize tumor mutational burden (TMB): in silico assessment of variation in TMB quantification across diagnostic platforms: phase I of the Friends …
DM Merino, LM McShane, D Fabrizio, V Funari, SJ Chen, White JR, ...
J Immunother Cancer 8 (1), 147, 2020
3172020
A comprehensive map of mobile element insertion polymorphisms in humans
C Stewart, D Kural, MP Strömberg, JA Walker, MK Konkel, AM Stütz, ...
PLoS genetics 7 (8), e1002236, 2011
3112011
Deleterious-and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing
Y Xue, Y Chen, Q Ayub, N Huang, EV Ball, M Mort, AD Phillips, K Shaw, ...
The American Journal of Human Genetics 91 (6), 1022-1032, 2012
3042012
SNPs for a universal individual identification panel
AJ Pakstis, WC Speed, R Fang, FCL Hyland, MR Furtado, JR Kidd, ...
Human genetics 127, 315-324, 2010
2442010
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