Results 61 to 70 of about 1,004,545 (280)

InPhaDel: integrative shotgun and proximity-ligation sequencing to phase deletions with single nucleotide polymorphisms. [PDF]

, 2016
Phasing of single nucleotide (SNV), and structural variations into chromosome-wide haplotypes in humans has been challenging, and required either trio sequencing or restricting phasing to population-based haplotypes.
Bafna, Vineet, Bansal, Vikas, Edge, Peter, Patel, Anand, Selvaraj, Siddarth   +4 more
core   +2 more sources

‘They Need to Hear You Say It’: Healthcare Professionals’ Perspectives on Barriers and Enablers to End‐of‐Life Discussions With Adolescents and Young Adults With Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT End‐of‐life conversations with adolescents and young adults (AYAs) with cancer rarely occur without the guidance of healthcare professionals. As a part of the ‘Difficult Discussions’ study, focused on palliative care and advance care planning discussions with AYAs with cancer, we investigated the factors that healthcare professionals identify ...
Justine Lee, Holly Evans, Claire E. Wakefield, Antoinette Anazodo, Richard J. Cohn, Brittany C. McGill, Elizabeth A. Lobb, Lori Wiener, Madeleine L. Juhrmann, Ursula M. Sansom‐Daly   +9 more
wiley   +1 more source

Mapping-based genome size estimation

BMC Genomics
While the size of chromosomes can be measured under a microscope, obtaining the exact size of a genome remains a challenge. Biochemical methods and k-mer distribution-based approaches allow only estimations. An alternative approach to estimate the genome
Shakunthala Natarajan, Jessica Gehrke, Boas Pucker   +2 more
doaj   +1 more source

Two Faces of NOTCH1 in Childhood Lymphoblastic T‐Cell Neoplasia: Prognostic Divergence of Mutational and Structural Aberrations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT In pediatric patients, T‐cell lymphoblastic lymphoma (T‐LBL) survival exceeds 80%. Relapse remains associated with limited curative options. Frontline treatment is largely extrapolated from T‐cell acute lymphoblastic leukemia (T‐ALL) treatment, reflecting the ongoing debate, whether both entities represent distinct diseases or variants within ...
Marie C. Heider, Amelie Alfert, Marc Hotfilder, Birgit Burkardt, Marcel te Vrugt   +4 more
wiley   +1 more source

Linked-read sequencing for detecting short tandem repeat expansions

Scientific Reports, 2022
Detection of short tandem repeat (STR) expansions with standard short-read sequencing is challenging due to the difficulty in mapping multicopy repeat sequences.
Readman Chiu, Indhu-Shree Rajan-Babu, Inanc Birol, Jan M. Friedman   +3 more
doaj   +1 more source

Single-molecule real-time sequencing combined with optical mapping yields completely finished fungal genome [PDF]

, 2015
Next-generation sequencing (NGS) technologies have increased the scalability, speed, and resolution of genomic sequencing and, thus, have revolutionized genomic studies.
Datema, Erwin, Faino, Luigi, Janssen, Antoine, Seidl, Michael F., Thomma, Bart P. H. J., Van Den Berg, Grardy C. M., Wittenberg, Alexander H. J.   +6 more
core   +2 more sources

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source

Chromosome-scale assembly and annotation of the perennial ryegrass genome

BMC Genomics, 2022
Background The availability of chromosome-scale genome assemblies is fundamentally important to advance genetics and breeding in crops, as well as for evolutionary and comparative genomics.
Istvan Nagy, Elisabeth Veeckman, Chang Liu, Michiel Van Bel, Klaas Vandepoele, Christian Sig Jensen, Tom Ruttink, Torben Asp   +7 more
doaj   +1 more source

An upstream open reading frame regulates expression of the mitochondrial protein Slm35 and mitophagy flux

FEBS Letters, EarlyView.
This study reveals how the mitochondrial protein Slm35 is regulated in Saccharomyces cerevisiae. The authors identify stress‐responsive DNA elements and two upstream open reading frames (uORFs) in the 5′ untranslated region of SLM35. One uORF restricts translation, and its mutation increases Slm35 protein levels and mitophagy.
Hernán Romo‐Casanueva, Ariann E. Mendoza‐Martínez, P. Abril Medina‐Flores, Carlos Campero‐Basaldua, Alexander DeLuna, Soledad Funes   +5 more
wiley   +1 more source

Towards Better Understanding of Artifacts in Variant Calling from High-Coverage Samples [PDF]

, 2015
Motivation: Whole-genome high-coverage sequencing has been widely used for personal and cancer genomics as well as in various research areas. However, in the lack of an unbiased whole-genome truth set, the global error rate of variant calls and the ...
Li, Heng
core   +1 more source