Where is the boundary of the human pseudoautosomal region?

Autor: Bellott DW; Whitehead Institute, Cambridge, MA 02142, USA., Hughes JF; Whitehead Institute, Cambridge, MA 02142, USA., Skaletsky H; Whitehead Institute, Cambridge, MA 02142, USA; Howard Hughes Medical Institute, Whitehead Institute, Cambridge, MA 02142, USA., Owen EC; Whitehead Institute, Cambridge, MA 02142, USA; Program in Computational and Systems Biology, Massachusetts Institute of Technology, Cambridge, MA 02142, USA., Page DC; Whitehead Institute, Cambridge, MA 02142, USA; Howard Hughes Medical Institute, Whitehead Institute, Cambridge, MA 02142, USA; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA. Electronic address: dcpage@wi.mit.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Nov 07; Vol. 111 (11), pp. 2530-2541. Date of Electronic Publication: 2024 Oct 14.

Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses in vivo and in vitro in four human cell types.

Autor: Blanton LV; Whitehead Institute, Cambridge, MA 02142, USA., San Roman AK; Whitehead Institute, Cambridge, MA 02142, USA., Wood G; Inflammatory Disease Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Buscetta A; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Banks N; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA., Skaletsky H; Whitehead Institute, Cambridge, MA 02142, USA; Howard Hughes Medical Institute, Whitehead Institute, Cambridge, MA 02142, USA., Godfrey AK; Whitehead Institute, Cambridge, MA 02142, USA., Pham TT; Whitehead Institute, Cambridge, MA 02142, USA., Hughes JF; Whitehead Institute, Cambridge, MA 02142, USA., Brown LG; Whitehead Institute, Cambridge, MA 02142, USA; Howard Hughes Medical Institute, Whitehead Institute, Cambridge, MA 02142, USA., Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Lin AE; Genetics Unit, MassGeneral for Children, Boston, MA 02114, USA., Kastner DL; Inflammatory Disease Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA., Page DC; Whitehead Institute, Cambridge, MA 02142, USA; Howard Hughes Medical Institute, Whitehead Institute, Cambridge, MA 02142, USA; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA. Electronic address: dcpage@wi.mit.edu.

Publikováno v: Cell genomics [Cell Genom] 2024 Sep 11; Vol. 4 (9), pp. 100628. Date of Electronic Publication: 2024 Aug 06.

Gapless assembly of complete human and plant chromosomes using only nanopore sequencing.

Autor: Koren S; Genome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA; sergey.koren@nih.gov adam.phillippy@nih.gov., Bao Z; Department of Molecular Biology, Max Planck Institute for Biology Tübingen, 72076 Tübingen, Baden-Württemberg, Germany.; Shenzhen Branch, Guangdong Laboratory of Lingnan Modern Agriculture, Genome Analysis Laboratory of the Ministry of Agriculture and Rural Affairs, Agricultural Genomics Institute at Shenzhen, Chinese Academy of Agricultural Sciences, Shenzhen 518120, China., Guarracino A; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA., Ou S; Department of Molecular Genetics, Ohio State University, Columbus, Ohio 43210, USA., Goodwin S; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA., Jenike KM; Department of Computer Science, Johns Hopkins University, Baltimore, Maryland 21218, USA., Lucas J; Genomics Institute, University of California Santa Cruz, Santa Cruz, California 95060, USA., McNulty B; Genomics Institute, University of California Santa Cruz, Santa Cruz, California 95060, USA., Park J; Genomics Institute, University of California Santa Cruz, Santa Cruz, California 95060, USA., Rautiainen M; Genome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA., Rhie A; Genome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA., Roelofs D; KeyGene, 6708 PW Wageningen, Netherlands., Schneiders H; KeyGene, 6708 PW Wageningen, Netherlands., Vrijenhoek I; KeyGene, 6708 PW Wageningen, Netherlands., Nijbroek K; KeyGene, 6708 PW Wageningen, Netherlands., Nordesjo O; Oxford Nanopore Technologies, Oxford OX4 4DQ, United Kingdom., Nurk S; Oxford Nanopore Technologies, Oxford OX4 4DQ, United Kingdom., Vella M; Oxford Nanopore Technologies, Oxford OX4 4DQ, United Kingdom., Lawrence KR; Oxford Nanopore Technologies, Oxford OX4 4DQ, United Kingdom., Ware D; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.; USDA ARS NEA Plant, Soil and Nutrition Laboratory Research Unit, Ithaca, New York 14853, USA., Schatz MC; Department of Computer Science, Johns Hopkins University, Baltimore, Maryland 21218, USA., Garrison E; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA., Huang S; Shenzhen Branch, Guangdong Laboratory of Lingnan Modern Agriculture, Genome Analysis Laboratory of the Ministry of Agriculture and Rural Affairs, Agricultural Genomics Institute at Shenzhen, Chinese Academy of Agricultural Sciences, Shenzhen 518120, China.; State Key Laboratory of Tropical Crop Breeding, Chinese Academy of Tropical Agricultural Sciences, Haikou, Hainan 571101, China., McCombie WR; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA., Miga KH; Genomics Institute, University of California Santa Cruz, Santa Cruz, California 95060, USA., Wittenberg AHJ; KeyGene, 6708 PW Wageningen, Netherlands., Phillippy AM; Genome Informatics Section, Center for Genomics and Data Science Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA; sergey.koren@nih.gov adam.phillippy@nih.gov.

Publikováno v: Genome research [Genome Res] 2024 Nov 20; Vol. 34 (11), pp. 1919-1930. Date of Electronic Publication: 2024 Nov 20.

The evolutionary landscape of prokaryotic chromosome/plasmid balance.

Autor: Xue W; Key Laboratory of Quantitative Synthetic Biology, Shenzhen Institute of Synthetic Biology, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, Shenzhen, China., Hong J; Key Laboratory of Quantitative Synthetic Biology, Shenzhen Institute of Synthetic Biology, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, Shenzhen, China., Wang T; Key Laboratory of Quantitative Synthetic Biology, Shenzhen Institute of Synthetic Biology, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, Shenzhen, China. t.wang1@siat.ac.cn.

Publikováno v: Communications biology [Commun Biol] 2024 Nov 04; Vol. 7 (1), pp. 1434. Date of Electronic Publication: 2024 Nov 04.

Translocation (11;14) is a common cytogenetic abnormality in clonal plasma cells in monoclonal immunoglobulin deposition disease.

Autor: Bhutani D; Department of Hematology/Oncology, Columbia University Medical Center, New York City, New York, USA., Liu Y; Department of Biostatistics, University of North Carolina, Durham, North Carolina, USA., Chakraborty R; Department of Hematology/Oncology, Columbia University Medical Center, New York City, New York, USA., Radhakrishnan J; Department of Nephrology, Columbia University Medical Center, New York City, New York, USA., Lentzsch S; Department of Hematology/Oncology, Columbia University Medical Center, New York City, New York, USA., Peters D; Department of Hematology/Oncology, University of North Carolina, Durham, North Carolina, USA., Rubinstein S; Department of Hematology/Oncology, University of North Carolina, Durham, North Carolina, USA.

Publikováno v: British journal of haematology [Br J Haematol] 2024 Nov; Vol. 205 (5), pp. 1860-1865. Date of Electronic Publication: 2024 Sep 06.