Results 21 to 30 of about 2,009,718 (421)

Genomics and Newborn Screening: Perspectives of Public Health Programs

International Journal of Neonatal Screening, 2022
This study assesses the benefits and challenges of using genomics in Newborn Screening Programs (NBS) from the perspectives of State program officials.
Aaron J. Goldenberg, Roselle Ponsaran, Amy Gaviglio, Dalton Simancek, Beth A. Tarini   +4 more
doaj   +1 more source

OrthoFinder: phylogenetic orthology inference for comparative genomics

Genome Biology, 2019
Here, we present a major advance of the OrthoFinder method. This extends OrthoFinder’s high accuracy orthogroup inference to provide phylogenetic inference of orthologs, rooted gene trees, gene duplication events, the rooted species tree, and comparative
David M. Emms, S. Kelly
semanticscholar   +1 more source

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Genetics in Medicine, 2015
Disclaimer: These ACMG Standards and Guidelines were developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory services.
Sue Richards, Nazneen Aziz, S. Bale, D. Bick, Soma Das, J. Gastier-Foster, W. Grody, M. Hegde, E. Lyon, E. Spector, K. Voelkerding, H. Rehm   +11 more
semanticscholar   +1 more source

The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data.

Cancer Discovery, 2012
The cBio Cancer Genomics Portal (http://cbioportal.org) is an open-access resource for interactive exploration of multidimensional cancer genomics data sets, currently providing access to data from more than 5,000 tumor samples from 20 cancer studies ...
E. Cerami, Jianjiong Gao, U. Dogrusoz, Benjamin E. Gross, S. O. Sumer, B. A. Aksoy, A. Jacobsen, Caitlin J. Byrne, M. Heuer, E. Larsson, Yevgeniy Antipin, B. Reva, A. P. Goldberg, C. Sander, N. Schultz   +14 more
semanticscholar   +1 more source

Neurospora from natural populations: Population genomics insights into the Life history of a model microbial Eukaryote [PDF]

, 2020
The ascomycete filamentous fungus Neurospora crassa played a historic role in experimental biology and became a model system for genetic research. Stimulated by a systematic effort to collect wild strains initiated by Stanford geneticist David Perkins ...
A Menkis, A Pandit, A Pandit, A Pringle, A Stamatakis, AJ Powell, BC Turner, BO Dodge, BO Dodge, BO Dodge, C Roux, CA Muirhead, CE Ellison, CF Villalta, CL Shear, D Bryant, D Charlesworth, D Falush, DD Perkins, DD Perkins, DD Perkins, DD Perkins, DD Perkins, DD Perkins, DJ Jacobson, DJ Jacobson, DJ Jacobson, DK Aanen, E Frichot, E Turner, E Turner, EM Luque, GS Saenz, GW Beadle, H Akashi, H-C Kuo, HV Colot, J Dettman, J Heller, J Heller, J Palma-Guerrero, J Svedberg, J Zhao, JB Leducq, JE Galagan, JE Stajich, JF Wilson, JK Pritchard, JR Dettman, JR Dettman, JW Taylor, JW Taylor, JW Taylor, K Kitazima, K Nygren, KR Pomraning, MJ Hubisz, MP Skupski, NB Raju, NG Swenson, NH Horowitz, NL Glass, NL Glass, P Ad, P Corcoran, P Corcoran, P Corcoran, P Corcoran, P Gladieux, P Gladieux, P Gladieux, PR Neal, RH Davis, RH Davis, RN Gutenkunst, S Billiard, S Mita De, S Poggeler, T Giraud, TE Cruickshank, YF Li   +80 more
core   +1 more source

Ancestral population genomics [PDF]

, 2012
The full genomes of several closely related species are now available, opening an emerging field of investigation borrowing both from population genetics and phylogenetics.
Dutheil, J., Hobolth, A.
core   +2 more sources

Bioleaching genomics [PDF]

Microbial Biotechnology, 2009
Contains fulltext : 80498.pdf (Publisher’s version ) (Open Access)
Siezen, R.J., Wilson, G.
openaire   +5 more sources

Development and validation of a radiogenomics model to predict axillary lymph node metastasis in breast cancer integrating MRI with transcriptome data: A multicohort study

Frontiers in Oncology, 2022
IntroductionTo develop and validate a radiogenomics model for predicting axillary lymph node metastasis (ALNM) in breast cancer compared to a genomics and radiomics model.MethodsThis retrospective study integrated transcriptomic data from The Cancer ...
Huifang Chen, Xiaosong Lan, Tao Yu, Lan Li, Sun Tang, Shuling Liu, Fujie Jiang, Lu Wang, Yao Huang, Ying Cao, Wei Wang, Xiaoxia Wang, Jiuquan Zhang   +12 more
doaj   +1 more source

Assessing functional novelty of PSI structures via structure-function analysis of large and diverse superfamilies [PDF]

, 2008
The structural genomics initiatives have had as one of their aims to improve our understanding of protein function by providing representative structures for many structurally uncharacterised protein families. As suggested by the recent assessment of the
Benoit H. Dessailly, Christine A. Orengo, Oliver C. Redfern   +2 more
core   +2 more sources

Integrative Genomics Viewer

Nature Biotechnology, 2011
Rapid improvements in sequencing and array-based platforms are resulting in a flood of diverse genome-wide data, including data from exome and whole-genome sequencing, epigenetic surveys, expression profiling of coding and noncoding RNAs, single ...
James T. Robinson, H. Thorvaldsdóttir, W. Winckler, M. Guttman, E. Lander, G. Getz, J. Mesirov   +6 more
semanticscholar   +1 more source