Takip et
Michael A Eberle
Michael A Eberle
Pacific Biosciences
pacificbiosciences.com üzerinde doğrulanmış e-posta adresine sahip
Başlık
Alıntı yapanlar
Alıntı yapanlar
Yıl
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
89042010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
85292012
Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium
CS Carlson, MA Eberle, MJ Rieder, Q Yi, L Kruglyak, DA Nickerson
The American Journal of Human Genetics 74 (1), 106-120, 2004
18592004
Mapping complex disease loci in whole-genome association studies
CS Carlson, MA Eberle, L Kruglyak, DA Nickerson
Nature 429 (6990), 446-452, 2004
8452004
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
7352011
Population history and natural selection shape patterns of genetic variation in 132 genes
JM Akey, MA Eberle, MJ Rieder, CS Carlson, MD Shriver, DA Nickerson, ...
PLoS biology 2 (10), e286, 2004
5932004
Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel
O Delaneau, J Marchini
Nature communications 5 (1), 3934, 2014
4582014
Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans
CS Carlson, MA Eberle, MJ Rieder, JD Smith, L Kruglyak, DA Nickerson
nature genetics 33 (4), 518-521, 2003
4302003
A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree
MA Eberle, E Fritzilas, P Krusche, M Källberg, BL Moore, MA Bekritsky, ...
Genome research 27 (1), 157-164, 2017
4052017
Extensive and breed-specific linkage disequilibrium in Canis familiaris
NB Sutter, MA Eberle, HG Parker, BJ Pullar, EF Kirkness, L Kruglyak, ...
Genome research 14 (12), 2388-2396, 2004
3942004
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
W Van Rheenen, RAA Van Der Spek, MK Bakker, JJFA Van Vugt, PJ Hop, ...
Nature genetics 53 (12), 1636-1648, 2021
3612021
Detection of long repeat expansions from PCR-free whole-genome sequence data
E Dolzhenko, JJ Van Vugt, RJ Shaw, MA Bekritsky, M Van Blitterswijk, ...
Genome research 27 (11), 1895-1903, 2017
3512017
Best practices for benchmarking germline small-variant calls in human genomes
P Krusche, L Trigg, PC Boutros, CE Mason, FM De La Vega, BL Moore, ...
Nature biotechnology 37 (5), 555-560, 2019
3492019
Genomic regions exhibiting positive selection identified from dense genotype data
CS Carlson, DJ Thomas, MA Eberle, JE Swanson, RJ Livingston, ...
Genome research 15 (11), 1553-1565, 2005
3222005
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions
E Dolzhenko, V Deshpande, F Schlesinger, P Krusche, R Petrovski, ...
Bioinformatics 35 (22), 4754-4756, 2019
2592019
Bioinformatics-based identification of expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS
H Rafehi, DJ Szmulewicz, MF Bennett, NLM Sobreira, K Pope, KR Smith, ...
The American Journal of Human Genetics 105 (1), 151-165, 2019
2292019
Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations
DC Crawford, CS Carlson, MJ Rieder, DP Carrington, Q Yi, JD Smith, ...
The American Journal of Human Genetics 74 (4), 610-622, 2004
2152004
Genome-wide detection of tandem DNA repeats that are expanded in autism
B Trost, W Engchuan, CM Nguyen, B Thiruvahindrapuram, E Dolzhenko, ...
Nature 586 (7827), 80-86, 2020
1862020
Length of uninterrupted CAG, independent of polyglutamine size, results in increased somatic instability, hastening onset of Huntington disease
GEB Wright, JA Collins, C Kay, C McDonald, E Dolzhenko, Q Xia, ...
The American Journal of Human Genetics 104 (6), 1116-1126, 2019
1842019
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data
E Dolzhenko, MF Bennett, PA Richmond, B Trost, S Chen, JJFA Van Vugt, ...
Genome biology 21, 1-14, 2020
1602020
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