Results 101 to 110 of about 232,752 (292)

Ancestry-Dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity. [PDF]

, 2019
Runs of homozygosity (ROH) are important genomic features that manifest when an individual inherits two haplotypes that are identical by descent. Their length distributions are informative about population history, and their genomic locations are useful ...
Burchard, Esteban G, Eng, Celeste, Hernandez, Ryan D, Hu, Donglei, Mak, Angel CY, Szpiech, Zachary A, White, Marquitta J   +6 more
core  

Interrogating the immune landscape of microsatellite stable RAS‐mutated colon cancer

Molecular Oncology, EarlyView.
COLOSSUS project RAS‐mutated MSS colon cancer study explored transcriptomics and immune cell density by immunohistochemistry (IHC), Immunoscore (IS), ISIC/TuLIS scores, mutation counts, and detected different prevalences but similar microenvironment composition across immune markers with clinical relevance for future immunotherapy combination ...
Rodrigo Dienstmann, Eduardo García‐Galea, Alice O'Farrell, Zak Kinsella, Maxime Meylan, Florent Petitprez, Ingrid Arijs, Tom Venken, Hari Ps, Adrian Lärkeryd, Ian Miller, Janick Selves, Nadja Meindl‐Beinker, Fiorella Ruiz‐Pace, Elena Élez, Raquel Comas‐Navarro, Frank Lincoln, Dirk Fey, Gift Nyamundanda, Aoife Nolan, Joern Lewin, Raquel Perez‐Lopez, Jonathan Briody, Kathleen Bennett, Walter Kolch, David Matallanas, Alexander Kel, Enrique Arenas, Joaquín Arribas, Bart Ghesquière, Josep Tabernero, Julie Meilleroux, Deborah McNamara, Ray McDermott, Marvin Lim, Mary O'Reilly, Brian Bird, Lisa Stack, Lucia Moloney, Patrick Morris, Keith Egan, Maciej Milewski, Lars Scheuer, Joachim Behringer, Georg Bolz, Ramon Salazar, Cristina Santos, Andrea Ruiz, Orla Casey, Verena Murphy, Matthias Ebert, Livio Trusolino, Diether Lambrechts, Anguraj Sadanandam, Catherine Sautès‐Fridman, Jochen Prehn, Paolo Nuciforo, Jacques Fieschi, Florence Monville, Darran O'Connor, Wolf Fridman, Annette Byrne   +61 more
wiley   +1 more source

Genetic ancestry is related to potential sources of breast cancer health disparities among Colombian women.

PLoS ONE
Breast cancer health disparities are linked to clinical-pathological determinants, socioeconomic inequities, and biological factors such as genetic ancestry.
Laura Rey-Vargas, Lina María Bejarano-Rivera, Silvia J Serrano-Gómez   +2 more
doaj   +1 more source

Population Structure and Cryptic Relatedness in Genetic Association Studies [PDF]

, 2009
We review the problem of confounding in genetic association studies, which arises principally because of population structure and cryptic relatedness. Many treatments of the problem consider only a simple ``island'' model of population structure. We take
Astle, William, Balding, David J.
core   +4 more sources

Hippo pathway at the crossroads of stemness and therapeutic resistance in breast cancer

Molecular Oncology, EarlyView.
Dysregulation of the Hippo pathway drives nuclear accumulation of YAP/TAZ, activating stemness‐related transcriptional programs that sustain breast cancer stemness and fuel therapeutic resistance across subtypes, underscoring Hippo signaling as a targetable vulnerability. Figure created and edited with BioRender.com.
Giulia Schiavoni, Antonella Palmese, Stefano Scalera, Laura Cipriani, Davide Mascolo, Patrizia Vici, Teresa Arcuri, Lorena Filomeno, Eriseld Krasniqi, Giovanni Blandino, Giulia Bon, Marcello Maugeri‐Saccà   +11 more
wiley   +1 more source

Using multiplexed functional data to reduce variant classification inequities in underrepresented populations

Genome Medicine
Background Multiplexed Assays of Variant Effects (MAVEs) can test all possible single variants in a gene of interest. The resulting saturation-style functional data may help resolve variant classification disparities between populations, especially for ...
Moez Dawood, Shawn Fayer, Sriram Pendyala, Mason Post, Divya Kalra, Karynne Patterson, Eric Venner, Lara A. Muffley, Douglas M. Fowler, Alan F. Rubin, Jennifer E. Posey, Sharon E. Plon, James R. Lupski, Richard A. Gibbs, Lea M. Starita, Carla Daniela Robles-Espinoza, Willow Coyote-Maestas, Irene Gallego Romero   +17 more
doaj   +1 more source

Differential expression of cancer‐related genes supports prediction of poor response to first‐line treatments in T‐ALL pediatric patients with high minimal residual disease

Molecular Oncology, EarlyView.
In the present work, we have identified a transcriptional signature based on the differential expression of six genes (BCL2&MAST4, HSH2D&LAT2, METRN&PITPNM2) that would facilitate the early detection of T‐cell acute lymphoblastic leukemia (T‐ALL) patients prone to a poor treatment response and could be implemented at diagnosis, along with other risk ...
Antonio Lahera, Laura Vela‐Martín, Pablo Fernández‐Navarro, José Luis López‐Lorenzo, Javier Cornago, Pilar Llamas, Eduardo Pérez‐Gómez, José Luis Marín‐Rubio, Manuel Fresno, Javier Santos, José Fernández‐Piqueras, María Villa‐Morales   +11 more
wiley   +1 more source

GrafAnc: Reliable and reproducible inference of continental and regional population structure

HGG Advances
Summary: Accurate inference of genetic ancestry is a fundamental step in population genetics, disease association studies, and understanding human history.
Yumi Jin, Hui Wang, Adam C. Naj, Li-San Wang, Wan-Ping Lee   +4 more
doaj   +1 more source

Leveraging population admixture to characterize the heritability of complex traits. [PDF]

, 2014
Despite recent progress on estimating the heritability explained by genotyped SNPs (h(2)g), a large gap between h(2)g and estimates of total narrow-sense heritability (h(2)) remains.
Assimes, Themistocles L, Berndt, Sonja I, Bhatia, Gaurav, Blot, William J, Chanock, Stephen, Franceschini, Nora, Goodman, Phyllis G, Gusev, Alexander, Haiman, Christopher, He, Jing, Hennis, Anselm JM, Hsing, Ann, Ingles, Sue A, Isaacs, William, Kittles, Rick A, Klein, Eric A, Kooperberg, Charles, Lange, Leslie A, Nemesure, Barbara, Pasaniuc, Bogdan, Patterson, Nick, Pollack, Samuela, Price, Alkes L, Reich, David, Reiner, Alex P, Rybicki, Benjamin A, Sankararaman, Sriram, Stanford, Janet L, Stevens, Victoria L, Stram, Daniel, Strom, Sara S, Tandon, Arti, Tang, Hua, Vilhjálmsson, Bjarni J, Whitsel, Eric A, Wilson, James G, Witte, John S, Xu, Jianfeng, Young, Taylor, Zaitlen, Noah, Zhang, Jianqi   +40 more
core  

Small ancestry informative marker panels for complete classification between the original four HapMap populations

, 2012
A protocol for the identification of ancestry informative markers (AIMs) from genome-wide single nucleotide polymorphism (SNP) data is proposed. The protocol consists of three main steps: (a) identification of potential positive selection regions via Fst
Aporntewan, Chatchawit, Assawamakin, Anunchai, Chaiyaratana, Nachol, Limwongse, Chanin, Piroonratana, Theera, Setsirichok, Damrongrit, Usavanarong, Touchpong, Wongseree, Waranyu   +7 more
core   +1 more source