Methods and applications for single-cell and spatial multi-omics

por Vandereyken, Katy, Sifrim, Alejandro, Thienpont, Bernard, Voet, Thierry
Publicado 2023

TrioVis: a visualization approach for filtering genomic variants of parent–child trios

por Sakai, Ryo, Sifrim, Alejandro, Vande Moere, Andrew, Aerts, Jan
Publicado 2013

Problems with the nested granularity of feature domains in bioinformatics: the eXtasy case

por Popovic, Dusan, Sifrim, Alejandro, Davis, Jesse, Moreau, Yves, De Moor, Bart
Publicado 2015

Medusa: A tool for exploring and clustering biological networks

por Pavlopoulos, Georgios A, Hooper, Sean D, Sifrim, Alejandro, Schneider, Reinhard, Aerts, Jan
Publicado 2011

Recent advances in congenital heart disease genomics

por Wilsdon, Anna, Sifrim, Alejandro, Hitz, Marc-Phillip, Hurles, Matthew, Brook, J. David
Publicado 2017

Beegle: from literature mining to disease-gene discovery

por ElShal, Sarah, Tranchevent, Léon-Charles, Sifrim, Alejandro, Ardeshirdavani, Amin, Davis, Jesse, Moreau, Yves
Publicado 2016

Unraveling genomic variation from next generation sequencing data

por Pavlopoulos, Georgios A, Oulas, Anastasis, Iacucci, Ernesto, Sifrim, Alejandro, Moreau, Yves, Schneider, Reinhard, Aerts, Jan, Iliopoulos, Ioannis
Publicado 2013

Meander: visually exploring the structural variome using space-filling curves

por Pavlopoulos, Georgios A., Kumar, Parveen, Sifrim, Alejandro, Sakai, Ryo, Lin, Meng Lay, Voet, Thierry, Moreau, Yves, Aerts, Jan
Publicado 2013

Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease

por Sifrim, Alejandro, Van Houdt, Jeroen KJ, Tranchevent, Leon-Charles, Nowakowska, Beata, Sakai, Ryo, Pavlopoulos, Georgios A, Devriendt, Koen, Vermeesch, Joris R, Moreau, Yves, Aerts, Jan
Publicado 2012

Early lineage segregation of multipotent embryonic mammary gland progenitors

por Wuidart, Aline, Sifrim, Alejandro, Fioramonti, Marco, Matsumura, Shigeru, Brisebarre, Audrey, Brown, Daniel, Centonze, Alessia, Dannau, Anne, Dubois, Christine, Van Keymeulen, Alexandra, Voet, Thierry, Blanpain, Cédric
Publicado 2018

Detection of structural mosaicism from targeted and whole-genome sequencing data

por King, Daniel A., Sifrim, Alejandro, Fitzgerald, Tomas W., Rahbari, Raheleh, Hobson, Emma, Homfray, Tessa, Mansour, Sahar, Mehta, Sarju G., Shehla, Mohammed, Tomkins, Susan E., Vasudevan, Pradeep C., Hurles, Matthew E.
Publicado 2017

Defining the Design Principles of Skin Epidermis Postnatal Growth

por Dekoninck, Sophie, Hannezo, Edouard, Sifrim, Alejandro, Miroshnikova, Yekaterina A., Aragona, Mariaceleste, Malfait, Milan, Gargouri, Souhir, de Neunheuser, Charlotte, Dubois, Christine, Voet, Thierry, Wickström, Sara A., Simons, Benjamin D., Blanpain, Cédric
Publicado 2020

Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders

por Gardner, Eugene J., Sifrim, Alejandro, Lindsay, Sarah J., Prigmore, Elena, Rajan, Diana, Danecek, Petr, Gallone, Giuseppe, Eberhardt, Ruth Y., Martin, Hilary C., Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E.
Publicado 2021

Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease

por Izarzugaza, Jose M. G., Ellesøe, Sabrina G., Doganli, Canan, Ehlers, Natasja Spring, Dalgaard, Marlene D., Audain, Enrique, Dombrowsky, Gregor, Banasik, Karina, Sifrim, Alejandro, Wilsdon, Anna, Thienpont, Bernard, Breckpot, Jeroen, Gewillig, Marc, Brook, J. David, Hitz, Marc-Phillip, Larsen, Lars A., Brunak, Søren
Publicado 2020

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1133 families with developmental disorders

por Wright, Caroline F., McRae, Jeremy F., Clayton, Stephen, Gallone, Giuseppe, Aitken, Stuart, FitzGerald, Tomas W., Jones, Philip, Prigmore, Elena, Rajan, Diana, Lord, Jenny, Sifrim, Alejandro, Kelsell, Rosemary, Parker, Michael J., Barrett, Jeffrey C., Hurles, Matthew E., FitzPatrick, David R., Firth, Helen V.
Publicado 2018

Contribution of retrotransposition to developmental disorders

por Gardner, Eugene J., Prigmore, Elena, Gallone, Giuseppe, Danecek, Petr, Samocha, Kaitlin E., Handsaker, Juliet, Gerety, Sebastian S., Ironfield, Holly, Short, Patrick J., Sifrim, Alejandro, Singh, Tarjinder, Chandler, Kate E., Clement, Emma, Lachlan, Katherine L., Prescott, Katrina, Rosser, Elisabeth, FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E.
Publicado 2019

The contribution of X-linked coding variation to severe developmental disorders

por Martin, Hilary C., Gardner, Eugene J., Samocha, Kaitlin E., Kaplanis, Joanna, Akawi, Nadia, Sifrim, Alejandro, Eberhardt, Ruth Y., Tavares, Ana Lisa Taylor, Neville, Matthew D. C., Niemi, Mari E. K., Gallone, Giuseppe, McRae, Jeremy, Wright, Caroline F., FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E.
Publicado 2021

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

por Bengani, Hemant, Handley, Mark, Alvi, Mohsan, Ibitoye, Rita, Lees, Melissa, Lynch, Sally Ann, Lam, Wayne, Fannemel, Madeleine, Nordgren, Ann, Malmgren, H., Kvarnung, M., Mehta, Sarju, McKee, Shane, Whiteford, Margo, Stewart, Fiona, Connell, Fiona, Clayton-Smith, Jill, Mansour, Sahar, Mohammed, Shehla, Fryer, Alan, Morton, Jenny, Grozeva, Detelina, Asam, Tara, Moore, David, Sifrim, Alejandro, McRae, Jeremy, Hurles, Matthew E., Firth, Helen V., Raymond, F. Lucy, Kini, Usha, Nellåker, Christoffer, DDD study, FitzPatrick, David R.
Publicado 2017

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

por Wright, Caroline F, Fitzgerald, Tomas W, Jones, Wendy D, Clayton, Stephen, McRae, Jeremy F, van Kogelenberg, Margriet, King, Daniel A, Ambridge, Kirsty, Barrett, Daniel M, Bayzetinova, Tanya, Bevan, A Paul, Bragin, Eugene, Chatzimichali, Eleni A, Gribble, Susan, Jones, Philip, Krishnappa, Netravathi, Mason, Laura E, Miller, Ray, Morley, Katherine I, Parthiban, Vijaya, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Swaminathan, G Jawahar, Tivey, Adrian R, Middleton, Anna, Parker, Michael, Carter, Nigel P, Barrett, Jeffrey C, Hurles, Matthew E, FitzPatrick, David R, Firth, Helen V
Publicado 2015

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

por Akawi, Nadia, McRae, Jeremy, Ansari, Morad, Balasubramanian, Meena, Blyth, Moira, Brady, Angela F., Clayton, Stephen, Cole, Trevor, Deshpande, Charu, Fitzgerald, Tomas W., Foulds, Nicola, Francis, Richard, Gabriel, George, Gerety, Sebastian S., Goodship, Judith, Hobson, Emma, Jones, Wendy D., Joss, Shelagh, King, Daniel, Klena, Nikolai, Kumar, Ajith, Lees, Melissa, Lelliott, Chris, Lord, Jenny, McMullan, Dominic, O'Regan, Mary, Osio, Deborah, Piombo, Virginia, Prigmore, Elena, Rajan, Diana, Rosser, Elisabeth, Sifrim, Alejandro, Smith, Audrey, Swaminathan, Ganesh J., Turnpenny, Peter, Whitworth, James, Wright, Caroline F., Firth, Helen V., Barrett, Jeffrey C., Lo, Cecilia W., FitzPatrick, David R., Hurles, Matthew E.
Publicado 2015