Results 121 to 130 of about 1,119,935 (184)

Clinical and data-driven optimization of Genomiser for rare disease patients: experience from the Hong Kong Genome Project. [PDF]

Brief Bioinform
Xi AMC, Yeung DLH, Ma W, Ying D, Tong AHY, Or D, Hue SPY, Project HKG, Chu AT, Chung BH.   +9 more
europepmc   +1 more source

A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project

Eleanor G. Seaby, Gary Leggatt, Guo Cheng, N. Simon Thomas, James J. Ashton, Imogen S. Stafford, Diana Baralle, Heidi L. Rehm, Anne O’Donnell‐Luria, Sarah Ennis, John C. Ambrose, Prabhu Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Matthew A. Brown, Mark J. Caulfield, G. C. Chan, Adam Giess, John N. Griffin, Angela Hamblin, Shirley Henderson, Tim Hubbard, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, A. Lakey, S. E. A. Leigh, I. U. S. Leong, Fabrice Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, Jenny Mitchell, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, J. Pullinger, T. Rahim, Augusto Rendon, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Eleanor Williams, Katarzyna Witkowska, S. M. Wood, Magdalena Zarowiecki   +69 more
openalex   +1 more source

The 1% gift to humanity: The Human Genome Project II. [PDF]

Cell Res
Liu W, Li Y, Patrinos GP, Xu S, Thong MK, Chen Z, Crawley FP, Li L, Ekmekci PE, Drmanac R, Cheong W, Benamouzig R, Nguyen Q, Volchkov P, Reichardt JKV, Carninci P, Majumder P, Jin X, Church G, Wang J, Xu X.   +20 more
europepmc   +1 more source

Unveiling the regulatory potential of the non-coding genome: Insights from the human genome project to precision medicine. [PDF]

Genes Dis
Ruffo P, Traynor BJ, Conforti FL.
europepmc   +1 more source

Ferret: a user-friendly Java tool to extract data from the 1000 Genomes Project [PDF]

, 2016
Sophie Limou, Andrew M. Taverner, Cheryl A. Winkler   +2 more
openalex   +1 more source

Enabling widespread use of Vertebrate Genome Project assembly pipeline by integration into Galaxy

, 2021
Delphine Larivière, Alexander Ostrovsky
openalex   +1 more source

Toward building a comprehensive human pan-genome: The SEN-GENOME project. [PDF]

Am J Hum Genet
Gaye A, Sene ARG, Gadji M, Deme A, Cisse A, Ndiaye R.   +5 more
europepmc   +1 more source

Exploring broad consent in the context of the 100,000 Genomes Project: a mixed methods study [PDF]

, 2020
Lisa Ballard, Rachel Horton, Sandi Dheensa, Angela Fenwick, Anneke Lucassen   +4 more
openalex   +1 more source

Experiences of participants with undiagnosed diseases and hereditary cancers during the initial phase of the Hong Kong genome project: a mixed-methods study. [PDF]

Hum Genomics
Chu AT, Sze SY, Tse DM, Lai CW, Ng CS, Yu CW, Chung PH, Pang FC, Chung BH, Lo SV, Quan J.   +10 more
europepmc   +1 more source

GenomeChronicler: The Personal Genome Project UK Genomic Report Generator Pipeline. [PDF]

Front Genet, 2020
Guerra-Assunção JA, Conde L, Moghul I, Webster AP, Ecker S, Chervova O, Chatzipantsiou C, Prieto PP, Beck S, Herrero J.   +9 more
europepmc   +1 more source