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... compromise juvenile survival. A scan for  homozygous 
A missense mutation in TUBD1 is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle
A missense mutation in TUBD1 is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle
Schwarzenbacher, Hermann; Burgstaller, Johann; Seefried, Franz R.; Wurmser, Christine; Hilbe, Monika; Jung, Simone; Fuerst, Christian; Dinhopl, Nora; Weissenböck, Herbert; Fuerst-Waltl, Birgit; Dolezal, Marlies; Winkler, Reinhard; Grueter, Oskar; Bleul, Ulrich; Wittek, Thomas; Fries, Ruedi; Pausch, Hubert
haplotype deficiency revealed a short ...
... of homozygotes. Results A scan for  homozygous 
Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle
Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle
Pausch, Hubert; Schwarzenbacher, Hermann; Burgstaller, Johann; Flisikowski, Krzysztof; Wurmser, Christine; Jansen, Sandra; Jung, Simone; Schnieke, Angelika; Wittek, Thomas; Fries, Ruedi
haplotype deficiency in 25,544 Fleckvieh ...
... allele we call this site in the genotype  homozygous 
Maximum parsimony xor haplotyping by sparse dictionary selection
Maximum parsimony xor haplotyping by sparse dictionary selection
Elmas, Abdulkadir; Jajamovich, Guido H; Wang, Xiaodong
and denote it with the type of alleles in ...
... indicate novel alleles. HapMap SNPs  homozygous 
Comprehensive assessment of sequence variation within the copy number variable defensin cluster on 8p23 by target enriched in-depth 454 sequencing
Comprehensive assessment of sequence variation within the copy number variable defensin cluster on 8p23 by target enriched in-depth 454 sequencing
Taudien, Stefan; Szafranski, Karol; Felder, Marius; Groth, Marco; Huse, Klaus; Raffaelli, Francesca; Petzold, Andreas; Zhang, Xinmin; Rosenstiel, Philip; Hampe, Jochen; Schreiber, Stefan; Platzer, Matthias
for the variant allele of the CTRL and ...
... disease signs when compared to mice  homozygous 
Spir2; a novel QTL on chromosome 4 contributes to susceptibility to pneumococcal infection in mice
Spir2; a novel QTL on chromosome 4 contributes to susceptibility to pneumococcal infection in mice
Wisby, Laura; Fernandes, Vitor E; Neill, Daniel R; Kadioglu, Aras; Andrew, Peter W; Denny, Paul
for BALB/c (p = 0.01) or CBA/Ca (p = ...
... a mean read depth of 12. Stretches with  homozygous 
Runs of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horses
Runs of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horses
Metzger, Julia; Karwath, Matthias; Tonda, Raul; Beltran, Sergi; Águeda, Lídia; Gut, Marta; Gut, Ivo Glynne; Distl, Ottmar
genotypes of >40 kb as well as >400 kb ...
... adult brain tumor in Drosophila caused by  homozygous 
Transcriptional signature of an adult brain tumor in Drosophila
Transcriptional signature of an adult brain tumor in Drosophila
Loop, Thomas; Leemans, Ronny; Stiefel, Urs; Hermida, Leandro; Egger, Boris; Xie, Fukang; Primig, Michael; Certa, Ulrich; Fischbach, Karl-Friedrich; Reichert, Heinrich; Hirth, Frank
mutation in the tumor suppressor gene ...
... breeds. None of the unaffected animals was  homozygous 
A nonsense mutation in PLD4 is associated with a zinc deficiency-like syndrome in Fleckvieh cattle
A nonsense mutation in PLD4 is associated with a zinc deficiency-like syndrome in Fleckvieh cattle
Jung, Simone; Pausch, Hubert; Langenmayer, Martin C; Schwarzenbacher, Hermann; Majzoub-Altweck, Monir; Gollnick, Nicole S; Fries, Ruedi
for the defect allele, while all eight ...
... released high-confidence SNP, indel, and  homozygous 
svclassify: a method to establish benchmark structural variant calls
svclassify: a method to establish benchmark structural variant calls
Parikh, Hemang; Mohiyuddin, Marghoob; Lam, Hugo Y. K.; Iyer, Hariharan; Chen, Desu; Pratt, Mark; Bartha, Gabor; Spies, Noah; Losert, Wolfgang; Zook, Justin M.; Salit, Marc
reference genotypes for Coriell DNA sample ...
... a concordance rate of 99.6–99.8 % for  homozygous 
Deep sequencing of Danish Holstein dairy cattle for variant detection and insight into potential loss-of-function variants in protein coding genes
Deep sequencing of Danish Holstein dairy cattle for variant detection and insight into potential loss-of-function variants in protein coding genes
Das, Ashutosh; Panitz, Frank; Gregersen, Vivi Raundahl; Bendixen, Christian; Holm, Lars-Erik
SNPs and 93.3–96.5 % for heterozygous ...
... population carried an average of 1.35  homozygous 
Development of a next-generation NIL library in Arabidopsis thaliana for dissecting complex traits
Development of a next-generation NIL library in Arabidopsis thaliana for dissecting complex traits
Fletcher, Richard S; Mullen, Jack L; Yoder, Seth; Bauerle, William L; Reuning, Gretchen; Sen, Saunak; Meyer, Eli; Juenger, Thomas E; McKay, John K
and 2.49 heterozygous introgressions per ...
... that a region unlinked to the mutation is  homozygous 
Variant mapping and mutation discovery in inbred mice using next-generation sequencing
Variant mapping and mutation discovery in inbred mice using next-generation sequencing
Gallego-Llamas, Jabier; Timms, Andrew E.; Geister, Krista A.; Lindsay, Anna; Beier, David R.
is 0.125 For our sequencing analysis, mice ...
... and are embryonic lethal in homozygosis.  Homozygous 
Whole transcriptome analysis of a reversible neurodegenerative process in Drosophila reveals potential neuroprotective genes
Whole transcriptome analysis of a reversible neurodegenerative process in Drosophila reveals potential neuroprotective genes
Ferreiro, María José; Rodríguez-Ezpeleta, Naiara; Pérez, Coralia; Hackenberg, Michael; Aransay, Ana María; Barrio, Rosa; Cantera, Rafael
sall mutant embryos exhibit degeneration ...
... the frequency of long stretches of  homozygous 
Variant detection and runs of homozygosity in next generation sequencing data elucidate the genetic background of Lundehund syndrome
Variant detection and runs of homozygosity in next generation sequencing data elucidate the genetic background of Lundehund syndrome
Metzger, Julia; Pfahler, Sophia; Distl, Ottmar
genotypes on basis of bead chip data was ...
... different pipelines. Tools Algorithm SNPs  Homozygous 
Global assessment of genomic variation in cattle by genome resequencing and high-throughput genotyping
Global assessment of genomic variation in cattle by genome resequencing and high-throughput genotyping
Zhan, Bujie; Fadista, João; Thomsen, Bo; Hedegaard, Jakob; Panitz, Frank; Bendixen, Christian
Heterozygous BWA + SAMtools Bayesian * ...
... on autosome 2, while B) tan morphs are  homozygous 
The value of avian genomics to the conservation of wildlife
The value of avian genomics to the conservation of wildlife
Romanov, Michael N; Tuttle, Elaina M; Houck, Marlys L; Modi, William S; Chemnick, Leona G; Korody, Marisa L; Mork, Emily M Stremel; Otten, Christie A; Renner, Tanya; Jones, Kenneth C; Dandekar, Sugandha; Papp, Jeanette C; Da, Yang; Green, Eric D; Magrini, Vincent; Hickenbotham, Matthew T; Glasscock, Jarret; McGrath, Sean; Mardis, Elaine R; Ryder, Oliver A; NISC Comparative Sequencing Program
for the non-inverted form of autosome 2. ...
... Three of our gene trap alleles display  homozygous 
Efficient disruption of Zebrafish genes using a Gal4-containing gene trap
Efficient disruption of Zebrafish genes using a Gal4-containing gene trap
Balciuniene, Jorune; Nagelberg, Danielle; Walsh, Kathleen T; Camerota, Diana; Georlette, Daphné; Biemar, Frédéric; Bellipanni, Gianfranco; Balciunas, Darius
lethal phenotypes ranging from embryonic ...
... a large absolute contrast are called as  homozygous 
Discovery of novel variants in genotyping arrays improves genotype retention and reduces ascertainment bias
Discovery of novel variants in genotyping arrays improves genotype retention and reduces ascertainment bias
Didion, John P; Yang, Hyuna; Sheppard, Keith; Fu, Chen-Ping; McMillan, Leonard; de Villena, Fernando Pardo-Manuel; Churchill, Gary A
genotypes and samples with low contrast ...
... and a DNA test to distinguish between  homozygous 
Partial duplication of the PRLR and SPEF2 genes at the late feathering locus in chicken
Partial duplication of the PRLR and SPEF2 genes at the late feathering locus in chicken
Elferink, Martin G; Vallée, Amélie AA; Jungerius, Annemieke P; Crooijmans, Richard PMA; Groenen, Martien AM
and heterozygous late feathering males are ...
... variation among Grey horses. Horses  homozygous 
Copy number expansion of the STX17 duplication in melanoma tissue from Grey horses
Copy number expansion of the STX17 duplication in melanoma tissue from Grey horses
Sundström, Elisabeth; Imsland, Freyja; Mikko, Sofia; Wade, Claire; Sigurdsson, Snaevar; Pielberg, Gerli Rosengren; Golovko, Anna; Curik, Ino; Seltenhammer, Monika H; Sölkner, Johann; Lindblad-Toh, Kerstin; Andersson, Leif
for the mutation show a more rapid greying ...
... marker subgenome), within which it can be  homozygous 
Development and preliminary evaluation of a 90 K Axiom® SNP array for the allo-octoploid cultivated strawberry Fragaria × ananassa
Development and preliminary evaluation of a 90 K Axiom® SNP array for the allo-octoploid cultivated strawberry Fragaria × ananassa
Bassil, Nahla V; Davis, Thomas M; Zhang, Hailong; Ficklin, Stephen; Mittmann, Mike; Webster, Teresa; Mahoney, Lise; Wood, David; Alperin, Elisabeth S; Rosyara, Umesh R; Koehorst-vanc Putten, Herma; Monfort, Amparo; Sargent, Daniel J; Amaya, Iraida; Denoyes, Beatrice; Bianco, Luca; van Dijk, Thijs; Pirani, Ali; Iezzoni, Amy; Main, Dorrie; Peace, Cameron; Yang, Yilong; Whitaker, Vance; Verma, Sujeet; Bellon, Laurent; Brew, Fiona; Herrera, Raul; van de Weg, Eric
present, heterozygous, or ...
... only the 396 substitutions called  homozygous 
Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexing
Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexing
Ramos, Enrique; Levinson, Benjamin T; Chasnoff, Sara; Hughes, Andrew; Young, Andrew L; Thornton, Katherine; Li, Allie; Vallania, Francesco LM; Province, Michael; Druley, Todd E
wild type by GWA, we find a specificity of ...
... recessive white chickens but not in the  homozygous 
Complete association between a retroviral insertion in the tyrosinase gene and the recessive white mutation in chickens
Complete association between a retroviral insertion in the tyrosinase gene and the recessive white mutation in chickens
Chang, Chung-Ming; Coville, Jean-Luc; Coquerelle, Gérard; Gourichon, David; Oulmouden, Ahmad; Tixier-Boichard, Michèle
wild type colored chicken. ...
... All genetic variants with the missing  homozygous 
Screening of whole genome sequences identified high-impact variants for stallion fertility
Screening of whole genome sequences identified high-impact variants for stallion fertility
Schrimpf, Rahel; Gottschalk, Maren; Metzger, Julia; Martinsson, Gunilla; Sieme, Harald; Distl, Ottmar
mutant genotype were genotyped on 337 ...
... coding variants, some of which carry  homozygous 
Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry
Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry
Thareja, Gaurav; John, Sumi Elsa; Hebbar, Prashantha; Behbehani, Kazem; Thanaraj, Thangavel Alphonse; Alsmadi, Osama
genotypes in the sequenced genome; the ...

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