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Michael A Eberle
Michael A Eberle
Pacific Biosciences
Bestätigte E-Mail-Adresse bei pacificbiosciences.com
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Zitiert von
Zitiert von
Jahr
A map of human genome variation from population scale sequencing
1000 Genomes Project Consortium
Nature 467 (7319), 1061, 2010
87382010
An integrated map of genetic variation from 1,092 human genomes
1000 Genomes Project Consortium
Nature 491 (7422), 56, 2012
82312012
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
18522004
Mapping complex disease loci in whole-genome association studies
CS Carlson, MA Eberle, L Kruglyak, DA Nickerson
Nature 429 (6990), 446-452, 2004
8312004
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
7072011
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
5802004
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
4342014
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
4242003
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
3882017
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
3842004
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
3172005
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
3162017
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
3112019
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
2762021
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
2142004
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
2102019
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
2022019
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
1642020
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
1562019
A new susceptibility locus for autosomal dominant pancreatic cancer maps to chromosome 4q32-34
MA Eberle, R Pfützer, KL Pogue-Geile, MP Bronner, D Crispin, ...
The American Journal of Human Genetics 70 (4), 1044-1048, 2002
1542002
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