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Search Articles for "Interpretation of variants"

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A possible genetic interpretation of the colour variants in the fleece of the Gotland and Goth sheep

Author(s): Adalsteinsson S | Lauvergne JJ | Boyazoglu JG | Ryder ML
Role of genetics in prediction of disease course and response to therapy

Author(s): Severine Vermeire, Gert Van Assche, Paul Rutgeerts
Semantic Web-Based Integration of Cancer Pathways and Allele Frequency Data

Author(s): E. Holford | Haseena Rajeevan | Hongyu Zhao | Kenneth K. Kidd | Kei-Hoi Cheung
Extraction of human kinase mutations from literature, databases and genotyping studies

Author(s): Krallinger Martin | Izarzugaza Jose | Rodriguez-Penagos Carlos | Valencia Alfonso
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

Author(s): Friedman JM | Adam Shelin | Arbour Laura | Armstrong Linlea | Baross Agnes | Birch Patricia | Boerkoel Cornelius | Chan Susanna | Chai David | Delaney Allen | Flibotte Stephane | Gibson William | Langlois Sylvie | Lemyre Emmanuelle | Li H Irene | MacLeod Patrick | Mathers Joan | Michaud Jacques | McGillivray Barbara | Patel Millan | Qian Hong | Rouleau Guy | Van Allen Margot | Yong Siu-Li | Zahir Farah | Eydoux Patrice | Marra Marco
Semantic Web-Based Integration of Cancer Pathways and Allele Frequency Data

Author(s): Matthew E. Holford | Haseena Rajeevan | Hongyu Zhao | Kenneth K. Kidd | Kei-Hoi Cheung
Integrating multiple genome annotation databases improves the interpretation of microarray gene expression data

Author(s): Yin Jun | McLoughlin Sarah | Jeffery Ian | Glaviano Antonino | Kennedy Breandan | Higgins Desmond
Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance

Author(s): Ahn Joo Wook | Mann Kathy | Walsh Sally | Shehab Marwa | Hoang Sarah | Docherty Zoe | Mohammed Shehla | Mackie Ogilvie Caroline
Pigmented Lesions Of Nonmelanocytic Origin A Pathological Perspective

Author(s): Crasta Julian | Rameshkumar Karuna
Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH

Author(s): Neill Nicholas | Torchia Beth | Bejjani Bassem | Shaffer Lisa | Ballif Blake
The Clinical Significance of Unknown Sequence Variants in BRCA Genes

Author(s): Valentina Calò | Loredana Bruno | Laura La Paglia | Marco Perez | Naomi Margarese | Francesca Di Gaudio | Antonio Russo
The temporal dimension of epic songs

Author(s): Lajić-Mihajlović Danka
The use of array-CGH in a cohort of Greek children with developmental delay

Author(s): Manolakos Emmanouil | Vetro Annalisa | Kefalas Konstantinos | Rapti Stamatia-Maria | Louizou Eirini | Garas Antonios | Kitsos George | Vasileiadis Lefteris | Tsoplou Panagiota | Eleftheriades Makarios | Peitsidis Panagiotis | Orru Sandro | Liehr Thomas | Petersen Michael | Thomaidis Loretta
Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes

Author(s): Sigurdson Alice | Hauptmann Michael | Chatterjee Nilanjan | Alexander Bruce | Doody Michele | Rutter Joni | Struewing Jeffery
An Automatic Collocation Extraction from Arabic Corpus

Author(s): Abdulgabbar M. Saif | Mohd J.A. Aziz
Host microsatellite alleles in malaria predisposition?

Author(s): Gaikwad Sonali | Ashma Richa | Kumar Nirbhay | Trivedi Rajni | Kashyap VK
Phenotype-genotype association grid: a convenient method for summarizing multiple association analyses

Author(s): Levy Daniel | DePalma Steven | Benjamin Emelia | O'Donnell Christopher | Parise Helen | Hirschhorn Joel | Vasan Ramachandran | Izumo Seigo | Larson Martin
SpliceMiner: a high-throughput database implementation of the NCBI Evidence Viewer for microarray splice variant analysis

Author(s): Kahn Ari | Ryan Michael | Liu Hongfang | Zeeberg Barry | Jamison D Curtis | Weinstein John
Large-scale copy number variants (CNVs): Distribution in normal subjects and FISH/real-time qPCR analysis

Author(s): Qiao Ying | Liu Xudong | Harvard Chansonette | Nolin Sarah | Brown W Ted | Koochek Maryam | Holden Jeanette | Lewis ME Suzanne | Rajcan-Separovic Evica
Transcript-level annotation of Affymetrix probesets improves the interpretation of gene expression data

Author(s): Yu Hui | Wang Feng | Tu Kang | Xie Lu | Li Yuan-Yuan | Li Yi-Xue
Spatial Distribution of Ambrosia Weediness in Soybean at Different Rates of Nitrogen Fertilization, based on Digital Imagery Analysis

Author(s): Ivana Vuković | Milan Mesić | Milan Bajić | Andrija Krtalić | Hrvoje Gold | Ivica Kisić | Ferdo Bašić | Željka Zgorelec | Krunoslav Sajko
Captación fisiológica y no maligna de [18]FDG en estudio PET de cuerpo completo.

Author(s): Gil Martínez, Eduardo Manuel. | Mohedano Ferrer, Borja. | Ramírez López, Miguel Ángel. | González Cabezas, Pedro. | Durán Barquero, Carmen. | Moya García, Francisco.
Escuelas nacionales de arte de Cubanacán. Diagnóstico y proyecto de restauración de artes plásticas

Author(s): Pérez Achazabal, L. | García Lorenzo, U. | Pascual Jorge, A. | Castilla Rodríguez, C. R. | Ruiz, L. | Maestre Mesa, M. A. | Recarei Morfa, C.
SpliceCenter: A suite of web-based bioinformatic applications for evaluating the impact of alternative splicing on RT-PCR, RNAi, microarray, and peptide-based studies

Author(s): Ryan Michael | Zeeberg Barry | Caplen Natasha | Cleland James | Kahn Ari | Liu Hongfang | Weinstein John
Unclassified sequence variants (UVS) and genetic predisposition to cancer

Author(s): Lucian Negura | Nancy Uhrhammer | Anca Negura | Eugen Ungureanu | Eugen Carasevici | Yves-Jean Bignon
Description and interpretation of various SNPs identified by BRCA2 gene sequencing

Author(s): Anca Negura | Nancy Uhrhammer | Yves-Jean Bignon | Lucian Negura
The representation of protein complexes in the Protein Ontology (PRO)

Author(s): Bult Carol | Drabkin Harold | Evsikov Alexei | Natale Darren | Arighi Cecilia | Roberts Natalia | Ruttenberg Alan | D'Eustachio Peter | Smith Barry | Blake Judith | Wu Cathy
An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition

Author(s): Muller Danièle | Rouleau Etienne | Schultz Inès | Caputo Sandrine | Lefol Cédrick | Bièche Ivan | Caron Olivier | Noguès Catherine | Limacher Jean | Demange Liliane | Lidereau Rosette | Fricker Jean | Abecassis Joseph
Whole-exome sequencing of DNA from peripheral blood mononuclear cells (PBMC) and EBV-transformed lymphocytes from the same donor

Author(s): Londin Eric | Keller Margaret | D'Andrea Michael | Delgrosso Kathleen | Ertel Adam | Surrey Saul | Fortina Paolo
The transcriptome of the novel dinoflagellate Oxyrrhis marina (Alveolata: Dinophyceae): response to salinity examined by 454 sequencing

Author(s): Lowe Chris | Mello Luciane | Samatar Najma | Martin Laura | Montagnes David | Watts Phillip
Meta-analysis and genome-wide interpretation of genetic susceptibility to drug addiction

Author(s): Li Chuan-Yun | Zhou Wei-Zhen | Zhang Ping-Wu | Johnson Catherine | Wei Liping | Uhl George
The interpretation of genetic tests in inherited cardiovascular diseases

Author(s): Lorenzo Monserrat | Andrea Mazzanti | Martin Ortiz-Genga | Roberto Barriales-Villa | Diego Garcia-Giustiniani | Juan Ramon Gimeno-Blanes
"Suure tamme" laul - süntees

Author(s): Matej Goršič
A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form

Author(s): Laros Jeroen | Blavier André | den Dunnen Johan | Taschner Peter
Identifying subtypes of patients with neovascular age-related macular degeneration by genotypic and cardiovascular risk characteristics

Author(s): Feehan Michael | Hartman John | Durante Richard | Morrison Margaux | Miller Joan | Kim Ivana | DeAngelis Margaret
HIV reverse transcriptase: Structural interpretation of drug resistant genetic variants from India

Author(s): Abraham J. Kandathil | R. Kannangai | G. Sridharan | Agnel P. Joseph | N. Srinivasan | Oriapadicakal C. Abraham | Susanne A. Pulimood
Unclassified sequence variants (UVS) and genetic predisposition to cancer

Author(s): Lucian Negura | Nancy Uhrhammer | Anca Negura | Eugen Ungureanu | Eugen Carasevici | Yves-Jean Bignon
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