October 2022

Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies

By |2022-09-27T11:43:43-04:00October 5th, 2022|Categories: Announcements|Tags: , , |

In this study, we conducted in-depth analyses to evaluate the power of different sequencing technologies, including long-read and short-read whole genome sequencing (WGS), in discovering genomic structural variation (SV). Our study revealed that albeit the over two-fold increase in the power of SV discovery by long-read sequences when compared against short reads, vast majority of [...]

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September 2022

Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

By |2022-09-27T11:36:07-04:00September 30th, 2022|Categories: Announcements, Publication|Tags: |

Recurrent and reciprocal copy number variations (CNVs) pose a substantial risk for neurodevelopmental and neuropsychiatric disorders. One example of such CNVs is recurrent deletion and duplication of an ~ 743 kb genomic segment of chromosome 16p11.2, which consists of an ~ 593 kb unique segment encompassing 27 protein-coding genes and an ~ 150 kb flanking [...]

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Introducing Dr. Ryan Collins!

By |2022-09-27T13:19:51-04:00September 27th, 2022|Categories: Announcements|Tags: , |

Introducing Dr. Ryan Collins! Ryan recently received his PhD from Harvard’s Bioinformatics and Integrative Genomics program. His thesis, The Landscape and Consequences of Structural Variation in the Human Genome, represents only a sliver of the work Ryan has accomplished in his nine years as a member of the lab, first joining us as a post-bac and [...]

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August 2020

Dr. Talkowski to become the new CGM Director

By |2020-08-14T14:04:41-04:00August 13th, 2020|Categories: Announcements|

We are delighted to announce that Michael E. Talkowski, PhD, has been selected to become the next Director of the Center for Genomic Medicine (CGM) at MGH beginning on September 1, 2020. Dr. Talkowski will be the third CGM Director, following two world-class scientists, Dr. Sekar Kathiresan and founding director Dr. James Gusella. With his [...]

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July 2020

gnomAD consortia Nature publications

By |2020-08-14T14:04:41-04:00July 13th, 2020|Categories: Announcements|

The Genome Aggregation Database (gnomAD) has published a collection of research articles and related content in Nature that describe and analyze human genetic variation. The Talkowski lab contributed to the flagship paper in addition to publishing our own contributing paper.

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February 2018

XDP Study Published in Cell

By |2022-09-07T15:18:26-04:00February 22nd, 2018|Categories: Announcements, Publication|Tags: |

X-linked Dystonia-Parkinsonism (XDP), is a rare Mendelian disorder predominantly observed on Panay island in the Philippines. The clinical phenotype most frequently combines features of dystonia and parkinsonism in a characteristic temporal progression. A region of the X-chromosome was linked to the disorder, yet the pathogenic mechanism has remained elusive. We demonstrate that this disorder is [...]

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October 2017

Chelsea Lowther joins the Talkowski Lab

By |2020-08-14T14:04:42-04:00October 11th, 2017|Categories: Announcements|

Chelsea joined the Talkowski laboratory in September 2017 as a postdoctoral fellow, after completing her PhD in Medical Science with Anne Bassett at the University of Toronto in Canada. In the Talkowski laboratory Chelsea will be working on the Developmental Genome Anatomy Project (DGAP) using whole-genome sequencing and computational tools to help identify new genetic [...]

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Xuefang Zhao joins the Talkowski Lab

By |2020-08-14T14:04:42-04:00October 11th, 2017|Categories: Announcements|

Xuefang joined the Talkowski lab in June 2017 as a postdoc fellow after receiving a Ph.D in Bioinformatics and a Masters in Statistics from the University of Michigan at Ann Arbor. She will be working as a member of the structural variation team pursuing applications of structural variation methods development to human disease cohort, with [...]

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March 2017

Kiana Mohajeri and Ryan Collins both awarded NSF Graduate Research Fellowships in genomics

By |2020-08-14T14:04:42-04:00March 28th, 2017|Categories: Announcements|

The Talkowski Lab is thrilled to announce the awarding of a fellowship grant to two of our PhD students, Ryan Collins and Kiana Mohajeri. Both Kiana and Ryan were awarded the Graduate Research Fellowship from the NSF in the field of genomics. Ryan and Kiana were chosen out of over 13,000 applications. There were a [...]

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March 2016

Strategy to recreate large DNA changes linked to autism

By |2020-08-14T14:04:42-04:00March 9th, 2016|Categories: Announcements|

Derek Tai, a Postdoctoral Fellow in the Talkowski Lab since 2013 comments on the lab's most recent Nature Neuroscience paper of which he is first author: "Recently, we developed a new CRISPR approach which can directly target perfectly homologous sequences in the segmental duplications and model the reciprocal dosage imbalances that occur via NAHR mechanisms. [...]

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