Results 41 to 50 of about 517,834 (299)

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]

, 2010
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F, Crompton, Danielle, De Gressi, Susanna, Foster, Kathleen, Hardy, Carol, Hughes, Imelda, Kurian, Manju A, Lunt, Peter, MacPherson, Lesley, Maher, Eamonn R, McDonald, Fiona, Morgan, Neil V, Pike, Michael G, Rehal, Pauline K, Smith, Matthew   +14 more
core   +1 more source

Genomic characteristics of miscarriage copy number variants [PDF]

Molecular Human Reproduction, 2015
Studies of copy number variants (CNVs) in miscarriages are rare in comparison to post-natal cases with developmental abnormalities. The overall characteristics of miscarriage CNVs (size, gene content and function) are therefore largely unexplored. Our goal was to assess and compare the characteristics of CNVs identified in 101 euploid miscarriages from
Hani, Bagheri, Eloi, Mercier, Ying, Qiao, Mary D, Stephenson, Evica, Rajcan-Separovic   +4 more
openaire   +2 more sources

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries. [PDF]

, 2018
Lipoprotein(a), Lp(a), is a modified low-density lipoprotein particle that contains apolipoprotein(a), encoded by LPA, and is a highly heritable, causal risk factor for cardiovascular diseases that varies in concentrations across ancestries. Here, we use
Alver, Maris, Bloom, Jonathan, Budoff, Matthew, Chaffin, Mark, Correa, Adolfo, Cupples, L Adrienne, Daly, Mark J, Engreitz, Jesse, Ernst, Jason, Esko, Tonu, Fu, Mao, Ganna, Andrea, Handsaker, Robert E, Johnson, W Craig, Kathiresan, Sekar, Kellis, Manolis, Manichaikul, Ani, McCarroll, Steven, Metspalu, Andres, Mitchell, Braxton D, Natarajan, Pradeep, Neale, Benjamin M, NHLBI TOPMed Lipids Working Group, Peloso, Gina M, Post, Wendy, Poterba, Timothy, Rich, Stephen S, Ripatti, Samuli, Rotter, Jerome I, Ruotsalainen, Sanni, Ryan, Kathleen A, Salomaa, Veikko, Seed, Cotton, Surakka, Ida, Tsai, Michael, Vasan, Ramachandran S, Wilson, James G, Yang, Chaojie, Zekavat, Seyedeh M   +38 more
core   +1 more source

Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders. [PDF]

, 2019
Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD.
Brian, J, Bryson, SE, Buchanan, JA, D'Abate, L, Davies, RW, Dobkins, K, Howe, J, Landa, R, Leef, J, Messinger, D, Ozonoff, S, Scherer, SW, Smith, IM, Stone, WL, Tammimies, K, Thiruvahindrapuram, B, Walker, S, Warren, ZE, Wei, J, Young, G, Yuen, RKC, Zwaigenbaum, L   +21 more
core   +2 more sources

Copy number variants in patients with short stature [PDF]

European Journal of Human Genetics, 2013
Height is a highly heritable and classic polygenic trait. Recent genome-wide association studies (GWAS) have revealed that at least 180 genetic variants influence adult height. However, these variants explain only about 10% of the phenotypic variation in height.
Duyvenvoorde, H.A. van, Lui, J.C., Kant, S.G., Oostdijk, W., Gijsbers, A.C.J., Hoffer, M.J.V., Karperien, M., Walenkamp, M.J.E., Noordam, C., Voorhoeve, P.G., Mericq, V., Pereira, A.M., Claahsen-van de Grinten, H.L., Gool, S.A. van, Breuning, M.H., Losekoot, M., Baron, J., Ruivenkamp, C.A.L., Wit, J.M.   +18 more
openaire   +8 more sources

ClassifyCNV: a tool for clinical annotation of copy-number variants

Scientific Reports, 2020
Copy-number variants (CNVs) are an important part of human genetic variation. They can be benign or can play a role in human disease by creating dosage imbalances and disrupting genes and regulatory elements.
Tatiana A. Gurbich, Valery Vladimirovich Ilinsky   +1 more
doaj   +1 more source

Identification of copy number variants from exome sequence data [PDF]

, 2014
Background With advances in next generation sequencing technologies and genomic capture techniques, exome sequencing has become a cost-effective approach for mutation detection in genetic diseases.
Kristiansen, Bjørn E, Lyle, Robert, Rødningen, Olaug K, Samarakoon, Pubudu S, Sheng, Ying, Skodje, Tove, Sorte, Hanne S, Stadheim, Barbro, Stray-Pedersen, Asbjørg, Tjønnfjord, Geir E   +9 more
core   +1 more source

Stochastic Gene Expression in Single Gene Oscillator Variants [PDF]

, 2016
It is infeasible to understand all dynamics in cell, but we can aim to understand the impact of design choices under our control. Here we consider a single gene oscillator as a case study to understand the influence of DNA copy number and repressor ...
Bennett, Matthew R., Gomez, Marcella M., Murray, Richard M., Shis, David L., Swaminathan, Anandh   +4 more
core  

Using GWAS Data to Identify Copy Number Variants Contributing to Common Complex Diseases

, 2010
Copy number variants (CNVs) account for more polymorphic base pairs in the human genome than do single nucleotide polymorphisms (SNPs). CNVs encompass genes as well as noncoding DNA, making these polymorphisms good candidates for functional variation ...
Teslovich, Tanya M., Zöllner, Sebastian
core   +1 more source

Product line architecture recovery with outlier filtering in software families: the Apo-Games case study [PDF]

, 2019
Software product line (SPL) approach has been widely adopted to achieve systematic reuse in families of software products. Despite its benefits, developing an SPL from scratch requires high up-front investment.
Assunção, Wesley KG, Chavez, Christina FG, Lima, Crescencio, Machado, Ivan C, Martinez, Jabier, Mendonça, William   +5 more
core   +2 more sources