BCFtools/csq: haplotype-aware variant consequences

por Danecek, Petr, McCarthy, Shane A
Publicado 2017

A Method for Checking Genomic Integrity in Cultured Cell Lines from SNP Genotyping Data

por Danecek, Petr, McCarthy, Shane A., Durbin, Richard
Publicado 2016

BCFtools/RoH: a hidden Markov model approach for detecting autozygosity from next-generation sequencing data

por Narasimhan, Vagheesh, Danecek, Petr, Scally, Aylwyn, Xue, Yali, Tyler-Smith, Chris, Durbin, Richard
Publicado 2016

HTSlib: C library for reading/writing high-throughput sequencing data

por Bonfield, James K, Marshall, John, Danecek, Petr, Li, Heng, Ohan, Valeriu, Whitwham, Andrew, Keane, Thomas, Davies, Robert M
Publicado 2021

High levels of RNA-editing site conservation amongst 15 laboratory mouse strains

por Danecek, Petr, Nellåker, Christoffer, McIntyre, Rebecca E, Buendia-Buendia, Jorge E, Bumpstead, Suzannah, Ponting, Chris P, Flint, Jonathan, Durbin, Richard, Keane, Thomas M, Adams, David J
Publicado 2012

Twelve years of SAMtools and BCFtools

por Danecek, Petr, Bonfield, James K, Liddle, Jennifer, Marshall, John, Ohan, Valeriu, Pollard, Martin O, Whitwham, Andrew, Keane, Thomas, McCarthy, Shane A, Davies, Robert M, Li, Heng
Publicado 2021

The variant call format and VCFtools

por Danecek, Petr, Auton, Adam, Abecasis, Goncalo, Albers, Cornelis A., Banks, Eric, DePristo, Mark A., Handsaker, Robert E., Lunter, Gerton, Marth, Gabor T., Sherry, Stephen T., McVean, Gilean, Durbin, Richard
Publicado 2011

Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells

por Rouhani, Foad J., Zou, Xueqing, Danecek, Petr, Badja, Cherif, Amarante, Tauanne Dias, Koh, Gene, Wu, Qianxin, Memari, Yasin, Durbin, Richard, Martincorena, Inigo, Bassett, Andrew R., Gaffney, Daniel, Nik-Zainal, Serena
Publicado 2022

Reference-based phasing using the Haplotype Reference Consortium panel

por Loh, Po-Ru, Danecek, Petr, Palamara, Pier Francesco, Fuchsberger, Christian, Reshef, Yakir A, Finucane, Hilary K, Schoenherr, Sebastian, Forer, Lukas, McCarthy, Shane, Abecasis, Goncalo R, Durbin, Richard, Price, Alkes L
Publicado 2016

Genetic and chemotherapeutic influences on germline hypermutation

por Kaplanis, Joanna, Ide, Benjamin, Sanghvi, Rashesh, Neville, Matthew, Danecek, Petr, Coorens, Tim, Prigmore, Elena, Short, Patrick, Gallone, Giuseppe, McRae, Jeremy, Carmichael, Jenny, Barnicoat, Angela, Firth, Helen, O’Brien, Patrick, Rahbari, Raheleh, Hurles, Matthew
Publicado 2022

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

Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences

por Haber, Marc, Doumet-Serhal, Claude, Scheib, Christiana, Xue, Yali, Danecek, Petr, Mezzavilla, Massimo, Youhanna, Sonia, Martiniano, Rui, Prado-Martinez, Javier, Szpak, Michał, Matisoo-Smith, Elizabeth, Schutkowski, Holger, Mikulski, Richard, Zalloua, Pierre, Kivisild, Toomas, Tyler-Smith, Chris
Publicado 2017

Tracing the Route of Modern Humans out of Africa by Using 225 Human Genome Sequences from Ethiopians and Egyptians

por Pagani, Luca, Schiffels, Stephan, Gurdasani, Deepti, Danecek, Petr, Scally, Aylwyn, Chen, Yuan, Xue, Yali, Haber, Marc, Ekong, Rosemary, Oljira, Tamiru, Mekonnen, Ephrem, Luiselli, Donata, Bradman, Neil, Bekele, Endashaw, Zalloua, Pierre, Durbin, Richard, Kivisild, Toomas, Tyler-Smith, Chris
Publicado 2015

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

por Huang, Jie, Howie, Bryan, McCarthy, Shane, Memari, Yasin, Walter, Klaudia, Min, Josine L., Danecek, Petr, Malerba, Giovanni, Trabetti, Elisabetta, Zheng, Hou-Feng, Gambaro, Giovanni, Richards, J. Brent, Durbin, Richard, Timpson, Nicholas J., Marchini, Jonathan, Soranzo, Nicole
Publicado 2015

Very low-depth whole-genome sequencing in complex trait association studies

por Gilly, Arthur, Southam, Lorraine, Suveges, Daniel, Kuchenbaecker, Karoline, Moore, Rachel, Melloni, Giorgio E M, Hatzikotoulas, Konstantinos, Farmaki, Aliki-Eleni, Ritchie, Graham, Schwartzentruber, Jeremy, Danecek, Petr, Kilian, Britt, Pollard, Martin O, Ge, Xiangyu, Tsafantakis, Emmanouil, Dedoussis, George, Zeggini, Eleftheria
Publicado 2019

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

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

por Timpson, Nicholas J., Walter, Klaudia, Min, Josine L., Tachmazidou, Ioanna, Malerba, Giovanni, Shin, So-Youn, Chen, Lu, Futema, Marta, Southam, Lorraine, Iotchkova, Valentina, Cocca, Massimiliano, Huang, Jie, Memari, Yasin, McCarthy, Shane, Danecek, Petr, Muddyman, Dawn, Mangino, Massimo, Menni, Cristina, Perry, John R. B., Ring, Susan M., Gaye, Amadou, Dedoussis, George, Farmaki, Aliki-Eleni, Burton, Paul, Talmud, Philippa J., Gambaro, Giovanni, Spector, Tim D., Smith, George Davey, Durbin, Richard, Richards, J Brent, Humphries, Steve E., Zeggini, Eleftheria, Soranzo, Nicole
Publicado 2014

Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

por Timpson, Nicholas J., Walter, Klaudia, Min, Josine L., Tachmazidou, Ioanna, Malerba, Giovanni, Shin, So-Youn, Chen, Lu, Futema, Marta, Southam, Lorraine, Iotchkova, Valentina, Cocca, Massimiliano, Huang, Jie, Memari, Yasin, McCarthy, Shane, Danecek, Petr, Muddyman, Dawn, Mangino, Massimo, Menni, Cristina, Perry, John R. B., Ring, Susan M., Gaye, Amadou, Dedoussis, George, Farmaki, Aliki-Eleni, Burton, Paul, Talmud, Philippa J., Gambaro, Giovanni, Spector, Tim D., Smith, George Davey, Durbin, Richard, Richards, J. Brent, Humphries, Steve E., Zeggini, Eleftheria, Soranzo, Nicole
Publicado 2015

Evidence for 28 genetic disorders discovered by combining healthcare and research data

por Kaplanis, Joanna, Samocha, Kaitlin E., Wiel, Laurens, Zhang, Zhancheng, Arvai, Kevin J., Eberhardt, Ruth Y., Gallone, Giuseppe, Lelieveld, Stefan H., Martin, Hilary C., McRae, Jeremy F., Short, Patrick J., Torene, Rebecca I., de Boer, Elke, Danecek, Petr, Gardner, Eugene J., Huang, Ni, Lord, Jenny, Martincorena, Iñigo, Pfundt, Rolph, Reijnders, Margot R. F., Yeung, Alison, Yntema, Helger G., Vissers, Lisenka E. L. M., Juusola, Jane, Wright, Caroline F., Brunner, Han G., Firth, Helen V., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., Gilissen, Christian, Retterer, Kyle
Publicado 2020

Common genetic variation drives molecular heterogeneity in human iPSCs

por Kilpinen, Helena, Goncalves, Angela, Leha, Andreas, Afzal, Vackar, Alasoo, Kaur, Ashford, Sofie, Bala, Sendu, Bensaddek, Dalila, Casale, Francesco Paolo, Culley, Oliver J, Danecek, Petr, Faulconbridge, Adam, Harrison, Peter W, Kathuria, Annie, McCarthy, Davis, McCarthy, Shane A, Meleckyte, Ruta, Memari, Yasin, Moens, Nathalie, Soares, Filipa, Mann, Alice, Streeter, Ian, Agu, Chukwuma A, Alderton, Alex, Nelson, Rachel, Harper, Sarah, Patel, Minal, White, Alistair, Patel, Sharad R, Clarke, Laura, Halai, Reena, Kirton, Christopher M, Kolb-Kokocinski, Anja, Beales, Philip, Birney, Ewan, Danovi, Davide, Lamond, Angus I, Ouwehand, Willem H, Vallier, Ludovic, Watt, Fiona M, Durbin, Richard, Stegle, Oliver, Gaffney, Daniel J
Publicado 2017