Kishwar Shafin

Google (United States) — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

29h-index9.3kcitations70works9.92yr avg
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Research Topics

Genomics and Phylogenetic Studies(41), Chromosomal and Genetic Variations(25), Cancer Genomics and Diagnostics(16), Genomics and Rare Diseases(15), Molecular Biology Techniques and Applications(8)

Publications62 total

71. Improved tumor profiling and diagnosis via long-read variant detection toolkit
Cancer Genetics·2025
Rapid, accurate long- and short-read mapping to large pangenome graphs with vg Giraffe
2025Open Access
Accurate somatic small variant discovery for multiple sequencing technologies with DeepSomatic
Nature Biotechnology·2025· 6 cited
A complete diploid human genome benchmark for personalized genomics
2025· 11 citedOpen Access
Accurate human genome analysis with element avidity sequencing
BMC Bioinformatics·2025· 2 citedOpen Access
Pangenome-aware DeepVariant
2025· 1 citedOpen Access
Highly accurate assembly polishing with DeepPolisher
Genome Research·2025· 5 citedOpen Access
Abstract 7436: DeepSomatic: A SNV and small-indel somatic caller using deep neural networks
Cancer Research·2025
Abstract 2848: Severus: A tool for detecting and characterizing complex structural variants in cancer using long-read sequencing
Cancer Research·2025
Severus detects somatic structural variation and complex rearrangements in cancer genomes using long-read sequencing
Nature Biotechnology·2025· 17 citedOpen Access
Small variant benchmark from a complete assembly of X and Y chromosomes
Nature Communications·2025· 5 citedOpen Access
Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation on gene expression and DNA methylation
2024· 11 citedOpen Access
A robust benchmark for detecting low-frequency variants in the HG002 Genome In A Bottle NIST reference material.
2024· 3 citedOpen Access
Highly accurate assembly polishing with DeepPolisher
2024· 4 citedOpen Access
DeepSomatic: Accurate somatic small variant discovery for multiple sequencing technologies
2024· 16 citedOpen Access
Local read haplotagging enables accurate long-read small variant calling
Nature Communications·2024· 16 citedOpen Access
The complete sequence and comparative analysis of ape sex chromosomes
Nature·2024· 115 citedOpen Access
Severus: accurate detection and characterization of somatic structural variation in tumor genomes using long reads
2024· 19 citedOpen Access
A Robust Benchmark for Detecting Low-Frequency Variants in the HG002 Genome in a Bottle NIST Reference Material
SSRN Electronic Journal·2024· 2 citedOpen Access
The Complete Sequence and Comparative Analysis of Ape Sex Chromosomes
2023· 24 citedOpen Access
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Frequent Co-authors

Benedict Paten(31), Andrew Carroll(27), Pi-Chuan Chang(24), Arang Rhie(22), Justin M. Zook(22), Adam M. Phillippy(22), Miten Jain(21), Alexey Kolesnikov(21), Sergey Koren(20), Fritz J. Sedlazeck(19), Nathan D. Olson(18), Daniel E. Cook(18), Jennifer McDaniel(16), Maria Nattestad(15), Karen H. Miga(15), Mitchell R. Vollger(14), Giulio Formenti(14), Michael C. Schatz(14), Trevor Pesout(14), Justin Wagner(13)