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Human genetics

High mutation burden in the checkpoint and micro-RNA processing genes in myelodysplastic syndrome

Ivan Sergeevich Moiseev, Nikolay Yurevich Tcvetkov, Ildar Munerovich Barkhatov, Maria Vladimirovna Barabanshikova, Dmitrii Sergeevich Bug, Natalya Vitalievna Petuhova, Artem Valerievich Tishkov, Evgenyi Alexandrovich Bakin, Ekaterina Andreevna Izmailova, Alena Igorevna Shakirova, Alexandr Dmitrievich Kulagin, Elena Vladislavovna Morozova

published 17 Mar 2021

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A classic approach for determining genomic prediction accuracy under terminal drought stress and well-watered conditions in wheat landraces and cultivars

Morteza Shabannejad, Mohammad-Reza Bihamta, Eslam Majidi-Hervan, Hadi Alipour, Asa Ebrahimi

published 05 Mar 2021

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A survival of the fittest strategy for the selection of genotypes by which drug responders and non-responders can be predicted in small groups

Daniël Höhle, Kim van Rooij, Jos Bloemers, James G. Pfaus, Frits Michiels, Paddy Janssen, Eric Claassen, Adriaan Tuiten

published 05 Mar 2021

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Clinical benefit for clinical sequencing using cancer panel testing

Sadaaki Nishimura, Atsushi Sugimoto, Shuhei Kushiyama, Shingo Togano, Kenji Kuroda, Yurie Yamamoto, Makoto Yamauchi, Toshiyuki Sumi, Hiroyasu Kaneda, Tomoya Kawaguchi, Minoru Kato, Mizuki Tagami, Naoto Oebisu, Manabu Hoshi, Kenjiro Kimura, Shoji Kubo, Kazuya Muguruma, Tsutomu Takashima, Masaichi Ohira, Masakazu Yashiro

published 26 Feb 2021

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Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis

Renata Lazari Sandoval, Ana Carolina Rathsam Leite, Daniel Meirelles Barbalho, Daniele Xavier Assad, Romualdo Barroso, Natalia Polidorio, Carlos Henrique dos Anjos, Andréa Discaciati de Miranda, Ana Carolina Salles de Mendonça Ferreira, Gustavo dos Santos Fernandes, Maria Isabel Achatz

published 19 Feb 2021

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No association of GSTP1 rs1695 polymorphism with amyotrophic lateral sclerosis: A case-control study in the Brazilian population

Jéssica Barletto de Sousa Barros, Kamilla de Faria Santos, Rômulo Morais Azevedo, Rayana Pereira Dantas de Oliveira, Ana Carolina Dourado Leobas, Dhiogo da Cruz Pereira Bento, Rodrigo da Silva Santos, Angela Adamski da Silva Reis

published 19 Feb 2021

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Genetically-determined body mass index and the risk of atrial fibrillation progression in men and women

J. E. Siland, B. O. Nguyen, R. R. de With, I. C. Van Gelder, P. van der Harst, M. Rienstra

published 18 Feb 2021

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Genome-wide association study on metabolite accumulation in a wild barley NAM population reveals natural variation in sugar metabolism

Mathias Ruben Gemmer, Chris Richter, Thomas Schmutzer, Manish L. Raorane, Björn Junker, Klaus Pillen, Andreas Maurer

published 16 Feb 2021

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Theoretical properties of distance distributions and novel metrics for nearest-neighbor feature selection

Bryan A. Dawkins, Trang T. Le, Brett A. McKinney

published 08 Feb 2021

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Swab pooling: A new method for large-scale RT-qPCR screening of SARS-CoV-2 avoiding sample dilution

Ana Paula Christoff, Giuliano Netto Flores Cruz, Aline Fernanda Rodrigues Sereia, Dellyana Rodrigues Boberg, Daniela Carolina de Bastiani, Laís Eiko Yamanaka, Gislaine Fongaro, Patrícia Hermes Stoco, Maria Luiza Bazzo, Edmundo Carlos Grisard, Camila Hernandes, Luiz Felipe Valter de Oliveira

published 04 Feb 2021

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Polygenic risk score validation using Korean genomes of 265 early-onset acute myocardial infarction patients and 636 healthy controls

Youngjune Bhak, Yeonsu Jeon, Sungwon Jeon, Changhan Yoon, Min Kim, Asta Blazyte, Yeonkyung Kim, Younghui Kang, Changjae Kim, Sang Yeub Lee, Jang-Whan Bae, Weon Kim, Yeo Jin Kim, Jungae Shim, Nayeong Kim, Sung Chun, Byoung-Chul Kim, Byung Chul Kim, Semin Lee, Jong Bhak, Eun-Seok Shin

published 04 Feb 2021

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Bivariate genome-wide association study (GWAS) of body mass index and blood pressure phenotypes in northern Chinese twins

Zhaoying Li, Weijing Wang, Xiaocao Tian, Haiping Duan, Chunsheng Xu, Dongfeng Zhang

published 04 Feb 2021

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Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy

Juha W. Koskenvuo, Inka Saarinen, Saija Ahonen, Johanna Tommiska, Sini Weckström, Eija H. Seppälä, Sari Tuupanen, Tiia Kangas-Kontio, Jennifer Schleit, Krista Heliö, Julie Hathaway, Anders Gummesson, Pia Dahlberg, Tiina H. Ojala, Ville Vepsäläinen, Ville Kytölä, Mikko Muona, Johanna Sistonen, Pertteli Salmenperä, Massimiliano Gentile, Jussi Paananen, Samuel Myllykangas, Tero-Pekka Alastalo, Tiina Heliö

published 03 Feb 2021

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